HBB gene related symptoms and diseases
All the information presented here about the HBB gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,OMIM,ORPHANET,HGNC, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to HBB gene
Symptoms // Phenotype | % Cases |
---|---|
Anemia | Common - Between 50% and 80% cases |
Abnormal hemoglobin | Uncommon - Between 30% and 50% cases |
Splenomegaly | Uncommon - Between 30% and 50% cases |
Microcytic anemia | Uncommon - Between 30% and 50% cases |
Jaundice | Rare - less than 30% cases |
Other less frequent symptoms and clinical features
Patients with HBB gene alterations may also develop some of the following symptoms and phenotypes:Rarely - Less than 30% cases
- Hepatomegaly
- Fever
- Cholelithiasis
- Fatigue
- Pallor
- Venous thrombosis
- Hemolytic anemia
- Postural instability
And 176 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to HBB gene
Here you will find a list of rare diseases related to the HBB. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
POLYCYTHEMIA VERA
Alternate names
POLYCYTHEMIA VERA Is also known as polycythemia rubra vera, acquired primary erythrocytosis, prv, vaquez disease, osler-vaquez disease, pv
Description
Polycythemia vera (PV) is an acquired myeloproliferative disorder characterized by an elevated absolute red blood cell mass caused by uncontrolled red blood cell production, frequently associated with uncontrolled white blood cell and platelet production.
Most common symptoms of POLYCYTHEMIA VERA
- Neoplasm
- Visual impairment
- Hypertension
- Hepatomegaly
- Fatigue
More info about POLYCYTHEMIA VERA
SICKLE CELL ANEMIA
Alternate names
SICKLE CELL ANEMIA Is also known as sickle cell disease
Description
Sickle cell anemias are chronic hemolytic diseases that may induce three types of acute accidents: severe anemia, severe bacterial infections, and ischemic vasoocclusive accidents (VOA) caused by sickle-shaped red blood cells obstructing small blood vessels and capillaries. Many diverse complications can occur.
Most common symptoms of SICKLE CELL ANEMIA
- Intellectual disability
- Pain
- Anemia
- Hypertension
- Hepatomegaly
More info about SICKLE CELL ANEMIA
HEMOGLOBIN C DISEASE
Description
Hemoglobin C disease (HbC) is a hemoglobinopathy characterized by production of abnormal variant hemoglobin known as hemoglobin C, with no or mild clinical manifestations (hemolytic anemia).
More info about HEMOGLOBIN C DISEASE
HEMOGLOBIN D DISEASE
Description
Hemoglobin D disease(HbD) is a hemoglobinopathy characterized by production of abnormal variant hemoglobin known as hemoglobin D, with no or mild clinical manifestations (splenomegaly, very mild anemia).
More info about HEMOGLOBIN D DISEASE
SOURCES: ORPHANET
HEMOGLOBIN E DISEASE
Description
Hemoglobin E disease (HbE) is a hemoglobinopathy characterized by production of abnormal variant hemoglobin known as hemoglobin E, with a generally benign, asymptomatic presentation.
Most common symptoms of HEMOGLOBIN E DISEASE
- Anemia
- Decreased mean corpuscular volume
More info about HEMOGLOBIN E DISEASE
SOURCES: ORPHANET
BETA-THALASSEMIA
Description
Beta-thalassemia is characterized by a reduced production of hemoglobin A (HbA, alpha-2/beta-2), which results from the reduced synthesis of beta-globin chains relative to alpha-globin chains, thus causing an imbalance in globin chain production and hence abnormal erythropoiesis. The disorder is clinically heterogeneous (summary by Ottolenghi et al., 1975).Absence of beta globin causes beta-zero-thalassemia. Reduced amounts of detectable beta globin causes beta-plus-thalassemia. For clinical purposes, beta-thalassemia is divided into thalassemia major (transfusion dependent), thalassemia intermedia (of intermediate severity), and thalassemia minor (asymptomatic, carrier state). The molecular and clinical aspects of the beta-thalassemias were reviewed by Olivieri (1999).The remarkable phenotypic diversity of the beta-thalassemias reflects the heterogeneity of mutations at the HBB locus, the action of many secondary and tertiary modifiers, and a wide range of environmental factors (Weatherall, 2001).
Most common symptoms of BETA-THALASSEMIA
- Growth delay
- Failure to thrive
- Muscle weakness
- Anemia
- Feeding difficulties
More info about BETA-THALASSEMIA
SICKLE CELL-HEMOGLOBIN C DISEASE SYNDROME
Alternate names
SICKLE CELL-HEMOGLOBIN C DISEASE SYNDROME Is also known as hbsc disease
Most common symptoms of SICKLE CELL-HEMOGLOBIN C DISEASE SYNDROME
- Pain
- Anemia
- Fatigue
More info about SICKLE CELL-HEMOGLOBIN C DISEASE SYNDROME
SOURCES: ORPHANET
SICKLE CELL-BETA-THALASSEMIA DISEASE SYNDROME
Alternate names
SICKLE CELL-BETA-THALASSEMIA DISEASE SYNDROME Is also known as hbs-beta-thalassemia syndrome
Most common symptoms of SICKLE CELL-BETA-THALASSEMIA DISEASE SYNDROME
- Pain
- Anemia
- Hypertension
- Pneumonia
- Jaundice
More info about SICKLE CELL-BETA-THALASSEMIA DISEASE SYNDROME
SOURCES: ORPHANET
HEINZ BODY ANEMIA
Description
This is a form of nonspherocytic hemolytic anemia of Dacie type I (in vitro autohemolysis is not corrected by added glucose). After splenectomy, which has little benefit, basophilic inclusions called Heinz bodies are demonstrable in the erythrocytes. Before splenectomy, diffuse or punctate basophilia may be evident. Most of these cases are probably instances of hemoglobinopathy. The hemoglobin demonstrates heat lability.Heinz bodies are observed also with the Ivemark syndrome (asplenia with cardiovascular anomalies; {208530}).
Most common symptoms of HEINZ BODY ANEMIA
- Anemia
- Fever
- Abnormality of metabolism/homeostasis
- Jaundice
- Hemolytic anemia
More info about HEINZ BODY ANEMIA
SICKLE CELL-HEMOGLOBIN E DISEASE SYNDROME
Alternate names
SICKLE CELL-HEMOGLOBIN E DISEASE SYNDROME Is also known as hbse disease
More info about SICKLE CELL-HEMOGLOBIN E DISEASE SYNDROME
SOURCES: ORPHANET
SICKLE CELL-HEMOGLOBIN D DISEASE SYNDROME
Alternate names
SICKLE CELL-HEMOGLOBIN D DISEASE SYNDROME Is also known as hbsd disease
More info about SICKLE CELL-HEMOGLOBIN D DISEASE SYNDROME
SOURCES: ORPHANET
HEMOGLOBIN M DISEASE
Alternate names
HEMOGLOBIN M DISEASE Is also known as m hemoglobinopathy
Description
Methemoglobinemia is a clinical condition in which more than 1% of hemoglobin is oxidized to methemoglobin, a type of hemoglobin that contains the ferric (Fe3+) form of iron. Patients with hemolobin M are cyanotic but otherwise asymptomatic. If the mutation occurs in the hemoglobin alpha subunit (OMIM ), cyanosis is apparent at birth, whereas if the beta chain is affected, cyanosis appears later or intensifies when beta subunit production increases. If a newborn carries a fetal M hemoglobin (gamma subunit; {142250}), cyanosis disappears when the complete gamma-beta-switch occurs (summary by Mansouri and Lurie, 1993).
Most common symptoms of HEMOGLOBIN M DISEASE
- Cyanosis
- Methemoglobinemia
More info about HEMOGLOBIN M DISEASE
DELTA-BETA-THALASSEMIA
Alternate names
DELTA-BETA-THALASSEMIA Is also known as hemoglobin f, hereditary persistence of, hereditary persistence of fetal hemoglobin, hb gene cluster-related, hpfh
Description
Delta-beta-thalassemia is a form of beta-thalassemia (see this term) characterized by decreased or absent synthesis of the delta- and beta-globin chains with a compensatory increase in expression of fetal gamma-chain synthesis.
Most common symptoms of DELTA-BETA-THALASSEMIA
- Anemia
- Hemolytic anemia
- Postural instability
- Microcytic anemia
- Abnormality of blood and blood-forming tissues
More info about DELTA-BETA-THALASSEMIA
HEREDITARY PERSISTENCE OF FETAL HEMOGLOBIN-BETA-THALASSEMIA SYNDROME
Alternate names
HEREDITARY PERSISTENCE OF FETAL HEMOGLOBIN-BETA-THALASSEMIA SYNDROME Is also known as hpfh-beta-thalassemia syndrome
Description
Hereditary persistence of fetal hemoglobin (HPFH) associated with beta-thalassemia (see this term) is characterized by high hemoglobin (Hb) F levels and an increased number of fetal-Hb-containing-cells.
Most common symptoms of HEREDITARY PERSISTENCE OF FETAL HEMOGLOBIN-BETA-THALASSEMIA SYNDROME
- Anemia
- Hepatomegaly
- Splenomegaly
- Pallor
- Persistence of hemoglobin F
More info about HEREDITARY PERSISTENCE OF FETAL HEMOGLOBIN-BETA-THALASSEMIA SYNDROME
SOURCES: ORPHANET
DOMINANT BETA-THALASSEMIA
Alternate names
DOMINANT BETA-THALASSEMIA Is also known as dyserythropoietic anemia, congenital, irish or weatherall type, inclusion body beta-thalassemia
Description
Dominant beta-thalassemia is a form of beta-thalassemia (see this term) resulting in moderate to severe anemia.
Most common symptoms of DOMINANT BETA-THALASSEMIA
- Anemia
- Splenomegaly
- Jaundice
- Pallor
- Postural instability
More info about DOMINANT BETA-THALASSEMIA
HEMOGLOBIN E-BETA-THALASSEMIA SYNDROME
Alternate names
HEMOGLOBIN E-BETA-THALASSEMIA SYNDROME Is also known as hbe-beta-thalassemia syndrome, e-beta-thalassemia
Description
Hemoglobin E - beta-thalassemia (HbE - BT) is a form of beta-thalassemia (see this term) that results in a mild to severe clinical presentation ranging from a condition indistinguishable from beta-thalassemia major to a mild form of beta-thalassemia intermedia (see these terms).
Most common symptoms of HEMOGLOBIN E-BETA-THALASSEMIA SYNDROME
- Anemia
- Immunodeficiency
- Increased serum ferritin
- Abnormal hemoglobin
More info about HEMOGLOBIN E-BETA-THALASSEMIA SYNDROME
SOURCES: ORPHANET
MALARIA
Description
Malaria is a preventable life-threatening parasitic disease caused by Plasmodium (P. ) parasites that are transmitted by Anophles mosquito bites to humans and is typically clinically characterized by attacks of fever, headache, chills and vomiting.
Most common symptoms of MALARIA
- Cognitive impairment
- Anemia
- Fever
- Respiratory distress
- Headache
More info about MALARIA
ERYTHROCYTOSIS, FAMILIAL, 6; ECYT6
Alternate names
ERYTHROCYTOSIS, FAMILIAL, 6; ECYT6 Is also known as erythrocytosis, beta-globin type, polycythemia, beta-globin type
Description
Familial erythrocytosis-6 is characterized by an increased oxygen affinity of hemoglobin (Hb), which results in decreased delivery of oxygen into the peripheral tissues and compensatory polycythemia. Patients are generally asymptomatic, as compensatory polycythemia assures normal oxygen tissue delivery. Patients have normal red cell morphology (summary by Kralovics and Prchal, 2000). Wajcman and Galacteros (2005) noted that although high oxygen affinity hemoglobins are usually well tolerated in young patients, they can lead to thrombotic complications in older patients or when they are associated with another cause that increases thrombotic risk. Wajcman and Galacteros (2005) also noted that the effect of increased oxygen affinity of Hb caused by an alpha chain variant (see {617981}) is usually milder than that caused by a beta chain variant.
Most common symptoms of ERYTHROCYTOSIS, FAMILIAL, 6; ECYT6
- Polycythemia
More info about ERYTHROCYTOSIS, FAMILIAL, 6; ECYT6
SOURCES: OMIM
BETA-THALASSEMIA MAJOR
Alternate names
BETA-THALASSEMIA MAJOR Is also known as cooley anemia, mediterranean anemia
Description
Beta-thalassemia (BT) major is a severe early-onset form of BT (see this term) characterized by severe anemia requiring regular red blood cell transfusions.
Most common symptoms of BETA-THALASSEMIA MAJOR
- Hearing impairment
- Muscle weakness
- Cataract
- Anemia
- Feeding difficulties
More info about BETA-THALASSEMIA MAJOR
SOURCES: ORPHANET
BETA-THALASSEMIA INTERMEDIA
Description
Beta-thalassemia (BT) intermedia is a form of BT (see this term) characterized by mild to moderate anemia which does not or only occasionally requires transfusion.
Most common symptoms of BETA-THALASSEMIA INTERMEDIA
- Anemia
- Hepatomegaly
- Abnormality of the skeletal system
- Splenomegaly
- Pulmonary arterial hypertension
More info about BETA-THALASSEMIA INTERMEDIA
SOURCES: ORPHANET
HEMOGLOBIN C-BETA-THALASSEMIA SYNDROME
Alternate names
HEMOGLOBIN C-BETA-THALASSEMIA SYNDROME Is also known as hbc-beta-thalassemia syndrome, c-beta-thalassemia
Description
Hemoglobin C - beta-thalassemia (HbC - BT) is a form of beta-thalassemia (see this term) resulting in moderate hemolytic anemia.
Most common symptoms of HEMOGLOBIN C-BETA-THALASSEMIA SYNDROME
- Anemia
- Splenomegaly
- Microcytic anemia
- Abnormal hemoglobin
More info about HEMOGLOBIN C-BETA-THALASSEMIA SYNDROME
SOURCES: ORPHANET
HEREDITARY PERSISTENCE OF FETAL HEMOGLOBIN-SICKLE CELL DISEASE SYNDROME
Alternate names
HEREDITARY PERSISTENCE OF FETAL HEMOGLOBIN-SICKLE CELL DISEASE SYNDROME Is also known as hpfh-sickle cell disease syndrome
Description
A rare, genetic, hemoglobinopathy characterized by generally mild clinical phenotype, high fetal hemoglobin levels and mild microcytosis and hypochromia. In some cases, acute sickle cell disease manifestations were reported, namely acute chest syndrome and acute pain crisis.
More info about HEREDITARY PERSISTENCE OF FETAL HEMOGLOBIN-SICKLE CELL DISEASE SYNDROME
SOURCES: ORPHANET
HEMOGLOBIN LEPORE-BETA-THALASSEMIA SYNDROME
Alternate names
HEMOGLOBIN LEPORE-BETA-THALASSEMIA SYNDROME Is also known as lepore-beta-thalassemia syndrome, hblepore-beta-thalassemia syndrome
More info about HEMOGLOBIN LEPORE-BETA-THALASSEMIA SYNDROME
SOURCES: ORPHANET
Search interest in HBB
Potential gene panels for HBB gene
MitoMet®Plus aCGH Analysis Panel
By Baylor Miraca Genetics Laboratories MitoMet®Plus aCGH Analysis that also includes the following genes: RGS9 RHO GRK1 RLBP1 RNASEL BCS1L RP1 RP2 RP9 RPE65
More info about this panelSickle Cell Disease Mutation Analysis Panel
By Baylor Miraca Genetics Laboratories
This panel specifically test the HBB gene.
More info about this panelGeneAware Complete Panel Version 2 (Female) Panel
By Baylor Miraca Genetics Laboratories GeneAware Complete Panel Version 2 (Female) that also includes the following genes: RMRP BCS1L SACS BLM SGCA SGCB SGCG SGSH SLC12A6 SLC17A5
More info about this panelGeneAware Complete Panel Version 2 (Male) Panel
By Baylor Miraca Genetics Laboratories GeneAware Complete Panel Version 2 (Male) that also includes the following genes: RMRP BCS1L SACS BLM SGCA SGCB SGCG SGSH SLC12A6 SLC17A5
More info about this panelGeneAware Basic Panel Version 2 (Female) Panel
By Baylor Miraca Genetics Laboratories GeneAware Basic Panel Version 2 (Female) that also includes the following genes: SMN1 CFTR DMD FMR1 HBA1 HBA2 HBB
More info about this panelGeneAware Basic Panel Version 2 (Male) Panel
By Baylor Miraca Genetics Laboratories GeneAware Basic Panel Version 2 (Male) that also includes the following genes: SMN1 CFTR HBA1 HBA2 HBB
More info about this panelGeneAware ACMG/ACOG Panel Version 2 (Male) Panel
By Baylor Miraca Genetics Laboratories GeneAware ACMG/ACOG Panel Version 2 (Male) that also includes the following genes: BLM SMN1 SMPD1 MCOLN1 CFTR FANCC GBA HBA1 HBA2 HBB
More info about this panelGeneAware ACMG/ACOG Panel Version 2 (Female) Panel
By Baylor Miraca Genetics Laboratories GeneAware ACMG/ACOG Panel Version 2 (Female) that also includes the following genes: BLM SMN1 SMPD1 MCOLN1 CFTR DMD FANCC FMR1 GBA HBA1
More info about this panelSickle cell anemia Panel
By Center for Human Genetics, Inc
This panel specifically test the HBB gene.
More info about this panelSickle cell disease Panel
By Center for Human Genetics, Inc
This panel specifically test the HBB gene.
More info about this panelHemoglobin C Panel
By UCSF Molecular Diagnostics Laboratory University of California, San Francisco
This panel specifically test the HBB gene.
More info about this panelBeta globin gene sequencing Panel
By UCSF Molecular Diagnostics Laboratory University of California, San Francisco
This panel specifically test the HBB gene.
More info about this panelHemoglobin SC Panel
By Molecular Genetics Diagnostic Laboratory Detroit Medical Center University Laboratories
This panel specifically test the HBB gene.
More info about this panelBeta-thalassemia Panel
By Molecular Genetics Diagnostic Laboratory Detroit Medical Center University Laboratories
This panel specifically test the HBB gene.
More info about this panelBeta-Thalassemia: HBB (Full Gene Sequencing) Panel
By Molecular Diagnostic Laboratory University of Alberta
This panel specifically test the HBB gene.
More info about this panelBeta-Thalassemia: HBB (Known Mutation) Panel
By Molecular Diagnostic Laboratory University of Alberta
This panel specifically test the HBB gene.
More info about this panelBeta-Thalassemia: HBB Prenatal Test (Full Sequencing) Panel
By Molecular Diagnostic Laboratory University of Alberta
This panel specifically test the HBB gene.
More info about this panelBeta-Thalassemia: HBB Prenatal Test (Known Mutation) Panel
By Molecular Diagnostic Laboratory University of Alberta
This panel specifically test the HBB gene.
More info about this panelHBB Deletion/Duplication Analysis Panel
By Molecular Diagnostic Laboratory University of Alberta
This panel specifically test the HBB gene.
More info about this panelHemoglobin SS-Beta Thalassemia Panel
By Genetics Laboratory Shodair Children's Hospital
This panel specifically test the HBB gene.
More info about this panelHBA1/HBA2 and HBB Mutation Analysis Panel
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center HBA1/HBA2 and HBB Mutation Analysis that also includes the following genes: HBA1 HBA2 HBB
More info about this panelErythrocytosis Panel by next-generation sequencing (NGS) Panel
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center Erythrocytosis Panel by next-generation sequencing (NGS) that also includes the following genes: BPGM EGLN1 VHL EPAS1 EPOR HBA1 HBA2 HBB JAK2
More info about this panelBeta Globin (HBB) Sequencing, Fetal Panel
By ARUP Laboratories, Molecular Genetics and Genomics
This panel specifically test the HBB gene.
More info about this panelHemoglobin Lepore (HBD/HBB Fusion) 3 Mutations Panel
By ARUP Laboratories, Molecular Genetics and Genomics Hemoglobin Lepore (HBD/HBB Fusion) 3 Mutations that also includes the following genes: HBB HBD
More info about this panelBeta Globin (HBB) Sequencing and Deletion/Duplication Panel
By ARUP Laboratories, Molecular Genetics and Genomics
This panel specifically test the HBB gene.
More info about this panelBeta Globin (HBB) HbS, HbC, & HbE Mutations, Fetal Panel
By ARUP Laboratories, Molecular Genetics and Genomics
This panel specifically test the HBB gene.
More info about this panelBeta Globin (HBB) Sequencing Panel
By ARUP Laboratories, Molecular Genetics and Genomics
This panel specifically test the HBB gene.
More info about this panelBeta Globin (HBB) HbS, HbC, & HbE Mutations Panel
By ARUP Laboratories, Molecular Genetics and Genomics
This panel specifically test the HBB gene.
More info about this panelHemoglobin Evaluation Reflexive Cascade Panel
By ARUP Laboratories, Molecular Genetics and Genomics Hemoglobin Evaluation Reflexive Cascade that also includes the following genes: HBA1 HBA2 HBB
More info about this panelBeta Globin (HBB) Deletion/Duplication Panel
By ARUP Laboratories, Molecular Genetics and Genomics Beta Globin (HBB) Deletion/Duplication that also includes the following genes: HBB HBD HBE1 HBG1 HBG2
More info about this panelSickle Cell Anemia Panel
By GENE Núcleo de Genética Médica de Minas Gerais
This panel specifically test the HBB gene.
More info about this panelHBB. Complete sequencing Panel
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the HBB gene.
More info about this panelHBB. Complete sequencing Panel
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the HBB gene.
More info about this panelBeta Thalassemia - HBB Deletion/Duplication Analysis Panel
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia
This panel specifically test the HBB gene.
More info about this panelSickle Cell Anemia - HBB Sequence Analysis Panel
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia
This panel specifically test the HBB gene.
More info about this panelBeta Thalassemia - HBB Sequence Analysis Panel
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia
This panel specifically test the HBB gene.
More info about this panelBeta Thalassemia - HBB Sequence Analysis Panel
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia
This panel specifically test the HBB gene.
More info about this panelBeta Thalassemia - HBB Known Point Mutation Analysis Panel
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia
This panel specifically test the HBB gene.
More info about this panelSickle Cell Hemoglobin Panel
By PerkinElmer Genetics, Inc.
This panel specifically test the HBB gene.
More info about this panelSickle Cell Anemia (sequence analysis of HBB gene) Panel
By CGC Genetics
This panel specifically test the HBB gene.
More info about this panelDelta-beta thalassemia (deletion/duplication analysis of HBB gene) Panel
By CGC Genetics
This panel specifically test the HBB gene.
More info about this panelDrepanocitosis (mutation HbS, c.20A>T on HBB gene) Panel
By CGC Genetics
This panel specifically test the HBB gene.
More info about this panelBeta-thalassemia (sequence analysis of HBB gene) Panel
By CGC Genetics
This panel specifically test the HBB gene.
More info about this panelDelta-beta-thalassemia (Punjab mutation, c.364G>C on HBB gene) Panel
By CGC Genetics
This panel specifically test the HBB gene.
More info about this panelHemoglobinopathies (sequence analysis of HBA1, HBA2 and HBB genes) Panel
By CGC Genetics Hemoglobinopathies (sequence analysis of HBA1, HBA2 and HBB genes) that also includes the following genes: HBA1 HBA2 HBB
More info about this panelSickle cell anemia (deletion/duplication analysis of HBB gene) Panel
By CGC Genetics
This panel specifically test the HBB gene.
More info about this panelSickle cell anemia (deletion/duplication analysis of HBB gene) Panel
By CGC Genetics
This panel specifically test the HBB gene.
More info about this panelbeta thalasemia Panel
By Institute of Medical Genetics and Genomics Sir Ganga Ram Hospital
This panel specifically test the HBB gene.
More info about this panelSickle cell Panel
By Institute of Medical Genetics and Genomics Sir Ganga Ram Hospital
This panel specifically test the HBB gene.
More info about this panelHb sICKLE, Hb D Punjab, Hb D Iran Panel
By Institute of Medical Genetics and Genomics Sir Ganga Ram Hospital
This panel specifically test the HBB gene.
More info about this panelBeta-Thalassemia and Hemoglobinopathy via HBB Gene Sequencing with CNV Detection Panel
By PreventionGenetics PreventionGenetics
This panel specifically test the HBB gene.
More info about this panelBeta-Thalassemia Panel
By MGZ Medical Genetics Center
This panel specifically test the HBB gene.
More info about this panelHemoglobin S Beta-Thalassemia Panel
By MGZ Medical Genetics Center
This panel specifically test the HBB gene.
More info about this panelHemoglobin SC Panel
By Bioscientia GmbH Center for Human Genetics
This panel specifically test the HBB gene.
More info about this panelHemoglobin SS Panel
By Bioscientia GmbH Center for Human Genetics
This panel specifically test the HBB gene.
More info about this panelBeta Thalassemia Panel
By Synlab MVZ Humane Genetik München Synlab MVZ Humane Genetik München
This panel specifically test the HBB gene.
More info about this panelBeta-thalassemia, HBB Panel
By DNA Diagnostics Laboratory University Hospital Ostrava
This panel specifically test the HBB gene.
More info about this panelBeta Thalassemia Panel
By GeneTech ATS GeneTech Private Limited
This panel specifically test the HBB gene.
More info about this panelSickle Cell Anemia Panel
By GeneTech ATS GeneTech Private Limited
This panel specifically test the HBB gene.
More info about this panelBeta Thalassemia Full Gene Sequencing Panel
By GeneTech ATS GeneTech Private Limited
This panel specifically test the HBB gene.
More info about this panelCentoICU platinum plus Panel
By Centogene AG - the Rare Disease Company CentoICU platinum plus that also includes the following genes: RMRP BCS1L BDNF RPS19 RPS6KA3 SALL1 SCN1A SCN2A SFTPB SFTPC
More info about this panelNew Born testing (CentoICU) Panel
By Centogene AG - the Rare Disease Company New Born testing (CentoICU) that also includes the following genes: RMRP BCS1L BDNF RPS19 RPS6KA3 SALL1 SCN1A SCN2A SFTPB SFTPC
More info about this panelSickle cell anemia Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the HBB gene.
More info about this panelDelta-beta thalassemia Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the HBB gene.
More info about this panelbeta Thalassemia Panel
By bio.logis Center for Human Genetics Diagnosticum
This panel specifically test the HBB gene.
More info about this panelalpha Thalassemia Panel
By bio.logis Center for Human Genetics Diagnosticum alpha Thalassemia that also includes the following genes: HBA1 HBA2 HBB
More info about this panelErythrocytes, Anemia Panel Panel
By CeGaT GmbH Erythrocytes, Anemia Panel that also includes the following genes: RPL11 RPL35A RPL5 RPS10 RPS17 RPS19 RPS24 RPS26 RPS7 SEC23B
More info about this panelBeta-Thalassemia Panel
By Molecular Diagnostics Division Centre for Cellular and Molecular Biology
This panel specifically test the HBB gene.
More info about this panelBeta-Thalassemia Panel
By Molecular Diagnostics Division Centre for Cellular and Molecular Biology
This panel specifically test the HBB gene.
More info about this panelHemoglobin-E Disease Panel
By Molecular Diagnostics Division Centre for Cellular and Molecular Biology
This panel specifically test the HBB gene.
More info about this panelSickle Cell Anemia Panel
By Molecular Diagnostics Division Centre for Cellular and Molecular Biology
This panel specifically test the HBB gene.
More info about this panelBeta-Thalassemia, HBB Sequencing Panel
By Duzen Laboratuvarlar Grubu Biyolojik Bilimler Arastirma Gelistirme ve Uretim AS
This panel specifically test the HBB gene.
More info about this panelTest for Beta-Thalassemia Panel
By Genetiks Genetic Diagnosis and Research Center Genetic Diagnosis and Research Center
This panel specifically test the HBB gene.
More info about this panelHemoglobin S Beta-Thalassemia (HbS, HBB) Panel
By MVZ Dortmund Dr. Eberhard & Partner
This panel specifically test the HBB gene.
More info about this panelBeta-Thalassemia (HBB) Panel
By MVZ Dortmund Dr. Eberhard & Partner
This panel specifically test the HBB gene.
More info about this panelHemoglobin E (HbE, HBB) Panel
By MVZ Dortmund Dr. Eberhard & Partner
This panel specifically test the HBB gene.
More info about this panelSickle cell disease (Hemoglobin SS, HBB) Panel
By MVZ Dortmund Dr. Eberhard & Partner
This panel specifically test the HBB gene.
More info about this panelHemoglobin SO-Arab disease (HbS/HbO Arab, HBB) Panel
By MVZ Dortmund Dr. Eberhard & Partner
This panel specifically test the HBB gene.
More info about this panelHemoglobin SD disease (HbS/HbD, HBB) Panel
By MVZ Dortmund Dr. Eberhard & Partner
This panel specifically test the HBB gene.
More info about this panelHemoglobin SC disease (HbS/HbC, HBB) Panel
By MVZ Dortmund Dr. Eberhard & Partner
This panel specifically test the HBB gene.
More info about this panelBeta Thalassemia Panel
By Asper Biogene Asper Biogene LLC
This panel specifically test the HBB gene.
More info about this panelbeta-Thalassemia, HBB sequencing Panel
By Molecular Diagnostics Laboratory University of Toledo Medical Center
This panel specifically test the HBB gene.
More info about this panelAllele-specific PCR for Hb E Panel
By Hemoglobinopathy Reference Laboratory UCSF Benioff Children's Hospital & Research Center Oakland
This panel specifically test the HBB gene.
More info about this panelAllele-specific PCR for Hb S Panel
By Hemoglobinopathy Reference Laboratory UCSF Benioff Children's Hospital & Research Center Oakland
This panel specifically test the HBB gene.
More info about this panelBeta globin gene sequencing Panel
By Hemoglobinopathy Reference Laboratory UCSF Benioff Children's Hospital & Research Center Oakland
This panel specifically test the HBB gene.
More info about this panelCapillary Zone Electrophoresis (Sebia) Panel
By Hemoglobinopathy Reference Laboratory UCSF Benioff Children's Hospital & Research Center Oakland Capillary Zone Electrophoresis (Sebia) that also includes the following genes: HBA1 HBA2 HBB HBD
More info about this panelCellulose Acetate Electrophoresis Panel
By Hemoglobinopathy Reference Laboratory UCSF Benioff Children's Hospital & Research Center Oakland Cellulose Acetate Electrophoresis that also includes the following genes: HBA1 HBA2 HBB
More info about this panelCitrate Agar Electrophoresis Panel
By Hemoglobinopathy Reference Laboratory UCSF Benioff Children's Hospital & Research Center Oakland
This panel specifically test the HBB gene.
More info about this panelMultiplex Gap-PCR for beta thalassemia deletions Panel
By Hemoglobinopathy Reference Laboratory UCSF Benioff Children's Hospital & Research Center Oakland Multiplex Gap-PCR for beta thalassemia deletions that also includes the following genes: HBB HBD
More info about this panelMLPA (Multiplex Ligation-Dependent Probe Amplification) for ?-globin gene cluster Panel
By Hemoglobinopathy Reference Laboratory UCSF Benioff Children's Hospital & Research Center Oakland MLPA (Multiplex Ligation-Dependent Probe Amplification) for ?-globin gene cluster that also includes the following genes: HBB HBD HBG1 HBG2
More info about this panelMultiplex Gap PCR for HPFH and Hb Lepore (Hollandia, Washington- Boston, Baltimore) Panel
By Hemoglobinopathy Reference Laboratory UCSF Benioff Children's Hospital & Research Center Oakland Multiplex Gap PCR for HPFH and Hb Lepore (Hollandia, Washington- Boston, Baltimore) that also includes the following genes: HBB HBD HBG1 HBG2
More info about this panelBeta-Thalassemia (HBB) Panel
By Center for Human Genetics Cliniques Universitaires Saint Luc
This panel specifically test the HBB gene.
More info about this panelHemoglobin SC Mutation Analysis Panel
By BloodCenter of Wisconsin Diagnostic Laboratories BloodCenter of Wisconsin, part of Versiti
This panel specifically test the HBB gene.
More info about this panelBeta-Thalassemia (sickle cell anaemia) Panel
By Praxis fuer Humangenetik Wien
This panel specifically test the HBB gene.
More info about this panelSickle cell anemia Panel
By Praxis fuer Humangenetik Wien
This panel specifically test the HBB gene.
More info about this panelSickle Cell Disease Panel
By GENETIX Centro de Investigación en Genética Humana y Reproductiva
This panel specifically test the HBB gene.
More info about this panelHBB Gene Sequencing Panel
By GENETIX Centro de Investigación en Genética Humana y Reproductiva
This panel specifically test the HBB gene.
More info about this panelHBB Panel
By Division Human Genetics Medical University Innsbruck
This panel specifically test the HBB gene.
More info about this panelBeta-thalassaemia gene mapping Panel
By Molecular Diagnosis Centre National University Hospital
This panel specifically test the HBB gene.
More info about this panelFamily Prep Screen Panel
By Counsyl Family Prep Screen that also includes the following genes: RMRP BCS1L RS1 SACS BLM SGCA SGCB SLC12A6 SLC17A5 SLC22A5
More info about this panelqCarrier Plus Panel
By Quantitative Genomic Medicine Laboratories, SL qCarrier Plus that also includes the following genes: RMRP RP2 RPE65 RPGR RPS6KA3 RS1 SACS SGCA SGCB SGSH
More info about this panelBeta-Thalassemia (sickle cell anaemia) Panel
By MedGene
This panel specifically test the HBB gene.
More info about this panelSickle cell anemia Panel
By MedGene
This panel specifically test the HBB gene.
More info about this panelBeta Thalassemia: HBB gene deletions-duplications analysis (MLPA) Panel
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the HBB gene.
More info about this panelBeta Thalassemia: HBB gene sequence analysis Panel
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the HBB gene.
More info about this panelSickle cell anemia: HBB gene mutation analysis (Glu6Val) Panel
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the HBB gene.
More info about this panelPan-Ethnic Carrier Screen: Gene Sequencing Panel Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Pan-Ethnic Carrier Screen: Gene Sequencing Panel that also includes the following genes: RMRP BCS1L RS1 SACS BLM SGCA SGCB SGCG SGSH SLC12A6
More info about this panelHereditary Hemolytic Anemia Comprehensive Sequencing, Varies Panel
By Mayo Clinic Genetic Testing Laboratories Mayo Clinic Hereditary Hemolytic Anemia Comprehensive Sequencing, Varies that also includes the following genes: RHAG RPS19 SEC23B SLC2A1 SPTA1 SPTB TPI1 UGT1A1 XK CD59
More info about this panelInheritest NGS, Society Guided Panel Panel
By Integrated Genetics Westborough Integrated Genetics Inheritest NGS, Society Guided Panel that also includes the following genes: BLM SMN1 SMPD1 MCOLN1 CFTR FANCC FMR1 GBA HBB HEXA
More info about this panelSickle Cell Anemia Mutation Analysis Panel
By Integrated Genetics Westborough Integrated Genetics
This panel specifically test the HBB gene.
More info about this panelBeta-Hemoglobinopathy (HBB) Panel
By Integrated Genetics Westborough Integrated Genetics
This panel specifically test the HBB gene.
More info about this panelInheritest NGS, Comprehensive Panel
By Integrated Genetics Westborough Integrated Genetics Inheritest NGS, Comprehensive that also includes the following genes: RMRP BCS1L SACS BLM SGSH SLC12A6 SLC17A5 SLC22A5 SLC26A2 SLC35A3
More info about this panelHBB Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the HBB gene.
More info about this panelBeta Globin Gene Dosage Analysis Panel
By Quest Diagnostics Nichols Institute San Juan Capistrano
This panel specifically test the HBB gene.
More info about this panelBeta Globin Gene Dosage Analysis (NY) Panel
By Quest Diagnostics Nichols Institute San Juan Capistrano
This panel specifically test the HBB gene.
More info about this panelBeta-Globin Complete Panel
By Quest Diagnostics Nichols Institute San Juan Capistrano
This panel specifically test the HBB gene.
More info about this panelBeta-Globin Complete (NY) Panel
By Quest Diagnostics Nichols Institute San Juan Capistrano
This panel specifically test the HBB gene.
More info about this panelSickle Cell Anemia, DNA Probe Analysis, Fetus Panel
By Quest Diagnostics Nichols Institute San Juan Capistrano
This panel specifically test the HBB gene.
More info about this panelSickle Cell Anemia, DNA Probe Analysis, Fetus Panel
By Quest Diagnostics Nichols Institute San Juan Capistrano
This panel specifically test the HBB gene.
More info about this panelComprehensive Hematology Panel Panel
By Blueprint Genetics Comprehensive Hematology Panel that also includes the following genes: RHAG RIT1 RPL11 RPL15 RPL35A RPL5 RPS10 RPS19 RPS24 RPS26
More info about this panelAnemia Panel Panel
By Blueprint Genetics Anemia Panel that also includes the following genes: RHAG RPL11 RPL15 RPL35A RPL5 RPS10 RPS19 RPS24 RPS26 RPS29
More info about this panelBeta Thalassemia and Hb S mutations Panel
By Genomic Research Center Shahid Beheshti University of Medical Sciences
This panel specifically test the HBB gene.
More info about this panelThalassemias, beta- Panel
By Bioarray
This panel specifically test the HBB gene.
More info about this panelSickle cell anemia Panel
By Bioarray
This panel specifically test the HBB gene.
More info about this panelBaby Genes Targeted Panel Panel
By Baby Genes Inc. Baby Genes Inc. Baby Genes Targeted Panel that also includes the following genes: BLM SLC22A5 SLC25A13 SLC5A5 SMPD1 BTD TAT TAZ TCN2 TG
More info about this panelRapid microarray (CGH and SNP) Panel
By Allele Diagnostics Allele Diagnostics Rapid microarray (CGH and SNP) that also includes the following genes: RPS19 RUNX2 SALL1 SCN1A SCN2A SDHB SDHD BMPR1A SGCE SH2D1A
More info about this panelHigh-Resolution Rapid Microarray (CGH and SNP) Panel
By Allele Diagnostics Allele Diagnostics High-Resolution Rapid Microarray (CGH and SNP) that also includes the following genes: RPS19 RUNX2 SALL1 SCN1A SCN2A SDHB SDHD BMPR1A SGCE SH2D1A
More info about this panelNext Generation Sequencing for Jaundice Associated Genes Variation Test Panel
By National Taiwan University Hospital A1 Center National Taiwan University Hospital Next Generation Sequencing for Jaundice Associated Genes Variation Test that also includes the following genes: BCS1L SCO1 SLC10A1 SLC40A1 SLCO1A2 SLCO1B1 SLCO1B3 SLCO2B1 SLC25A13 SUCLG1
More info about this panelMutation analysis for beta Thalassemia Panel
By Diagnostics Division Centre for DNA Fingerprinting and Diagnostics
This panel specifically test the HBB gene.
More info about this panelMutation analysis of Sickle cell anemia Panel
By Diagnostics Division Centre for DNA Fingerprinting and Diagnostics
This panel specifically test the HBB gene.
More info about this panelBeta Thalassemia and Hb S mutations Panel
By Center for Comprehensive Genetic Services Shahid Beheshti University of Medical Sciences
This panel specifically test the HBB gene.
More info about this panelBETA-THALASSEMIA Panel
By Laboratorio de Genetica Clinica SL
This panel specifically test the HBB gene.
More info about this panelSICKLE CELL ANEMIA Panel
By Laboratorio de Genetica Clinica SL
This panel specifically test the HBB gene.
More info about this panelBeta Thalassemia, Sequencing HBB Gene Panel
By Reference Laboratory Genetics
This panel specifically test the HBB gene.
More info about this panelBeta Thalassemia, Frequent Mutations HBB Gene Panel
By Reference Laboratory Genetics
This panel specifically test the HBB gene.
More info about this panelDelta Beta Thalassemia , Deletions (MLPA) HBB Gene Panel
By Reference Laboratory Genetics
This panel specifically test the HBB gene.
More info about this panelBeta Thalassemia Panel
By Labor Dr. Wisplinghoff
This panel specifically test the HBB gene.
More info about this panelSickle cell anemia Panel
By Labor Dr. Wisplinghoff
This panel specifically test the HBB gene.
More info about this panelBeta-thalassemia gene sequencing Panel
By Foundation for Research In Genetics and Endocrinology and Institute of Human Genetics Institute of Human Genetics
This panel specifically test the HBB gene.
More info about this panelHemoglobin D disease: Cd121G>C mutation study Panel
By Foundation for Research In Genetics and Endocrinology and Institute of Human Genetics Institute of Human Genetics
This panel specifically test the HBB gene.
More info about this panelHemoglobin E disease: Cd26(T-C) mutation study Panel
By Foundation for Research In Genetics and Endocrinology and Institute of Human Genetics Institute of Human Genetics
This panel specifically test the HBB gene.
More info about this panelplanTrue Extended Panel
By True Health Diagnostics planTrue Extended that also includes the following genes: RMRP RS1 BLM SLC17A5 SLC22A5 SLC26A2 SMN1 SMPD1 BTD TNNT1
More info about this panelplanTrue ACOG & ACMG Screen Panel
By True Health Diagnostics planTrue ACOG & ACMG Screen that also includes the following genes: BLM SMN1 SMPD1 MCOLN1 CFTR FANCC GBA HBA1 HBA2 HBB
More info about this panelplanTrue Standard Panel
By True Health Diagnostics planTrue Standard that also includes the following genes: BLM SMN1 SMPD1 CLRN1 MCOLN1 PCDH15 CFTR TMEM216 DLD FANCC
More info about this panelSickle cell disease & Thalassemia: gene sequencing panel (RAPID testing) Panel
By CEN4GEN Institute for Genomics and Molecular Diagnostics Sickle cell disease & Thalassemia: gene sequencing panel (RAPID testing) that also includes the following genes: HBA1 HBA2 HBB
More info about this panelCEN4GEN rapid supplemental newborn genetic screen: Full gene sequencing panel Panel
By CEN4GEN Institute for Genomics and Molecular Diagnostics CEN4GEN rapid supplemental newborn genetic screen: Full gene sequencing panel that also includes the following genes: BLM SLC22A5 SLC25A13 SLC5A5 SMPD1 BTD TAT TAZ TCN2 DUOX2
More info about this panelCEN4GEN rapid pan-ethnic carrier screen: Full gene sequencing panel Panel
By CEN4GEN Institute for Genomics and Molecular Diagnostics CEN4GEN rapid pan-ethnic carrier screen: Full gene sequencing panel that also includes the following genes: BLM SLC22A5 SLC25A13 SLC5A5 SMPD1 BTD TAT TAZ TCN2 TG
More info about this panelBeta thalassemia major: Full gene sequencing (Rapid testing) Panel
By CEN4GEN Institute for Genomics and Molecular Diagnostics
This panel specifically test the HBB gene.
More info about this panelSickle hemoglobin C disease: Full gene sequencing (Rapid testing) Panel
By CEN4GEN Institute for Genomics and Molecular Diagnostics
This panel specifically test the HBB gene.
More info about this panelSickle cell disease variants: Full gene sequencing (Rapid testing) Panel
By CEN4GEN Institute for Genomics and Molecular Diagnostics
This panel specifically test the HBB gene.
More info about this panelHb E/ Beta0 thalassemia: Full gene sequencing (Rapid testing) Panel
By CEN4GEN Institute for Genomics and Molecular Diagnostics
This panel specifically test the HBB gene.
More info about this panelSickle hemoglobin D disease: Full gene sequencing (Rapid testing) Panel
By CEN4GEN Institute for Genomics and Molecular Diagnostics
This panel specifically test the HBB gene.
More info about this panelSickle cell anemia (S/S): Full gene sequencing (Rapid testing) Panel
By CEN4GEN Institute for Genomics and Molecular Diagnostics
This panel specifically test the HBB gene.
More info about this panelHereditary persistence of fetal hemoglobin: Full gene sequencing (Rapid testing) Panel
By CEN4GEN Institute for Genomics and Molecular Diagnostics
This panel specifically test the HBB gene.
More info about this panelHb variants: Full gene sequencing (Rapid testing) Panel
By CEN4GEN Institute for Genomics and Molecular Diagnostics
This panel specifically test the HBB gene.
More info about this panelHb Variant/ Beta0 thalassemia: Full gene sequencing (Rapid testing) Panel
By CEN4GEN Institute for Genomics and Molecular Diagnostics
This panel specifically test the HBB gene.
More info about this panelHb S/ Beta0 thalassemia: Full gene sequencing (Rapid testing) Panel
By CEN4GEN Institute for Genomics and Molecular Diagnostics
This panel specifically test the HBB gene.
More info about this panelHb EE: Full gene sequencing (Rapid testing) Panel
By CEN4GEN Institute for Genomics and Molecular Diagnostics
This panel specifically test the HBB gene.
More info about this panelPan-Ethnic Carrier Screen: Full Gene Sequencing and SMA Analysis Panel
By CEN4GEN Institute for Genomics and Molecular Diagnostics Pan-Ethnic Carrier Screen: Full Gene Sequencing and SMA Analysis that also includes the following genes: RMRP BCS1L SACS BLM SGCA SGCB SGCG SGSH SLC12A6 SLC17A5
More info about this panelHb E/Beta+ thalassemia: Full gene sequencing (Rapid testing) Panel
By CEN4GEN Institute for Genomics and Molecular Diagnostics
This panel specifically test the HBB gene.
More info about this panelHb D/ Beta0 thalassemia: Full gene sequencing (Rapid testing) Panel
By CEN4GEN Institute for Genomics and Molecular Diagnostics
This panel specifically test the HBB gene.
More info about this panelHb C/Beta+ thalassemia: Full gene sequencing (Rapid testing) Panel
By CEN4GEN Institute for Genomics and Molecular Diagnostics
This panel specifically test the HBB gene.
More info about this panelHb D/Beta+ thalassemia: Full gene sequencing (Rapid testing) Panel
By CEN4GEN Institute for Genomics and Molecular Diagnostics
This panel specifically test the HBB gene.
More info about this panelHb D disease (Hb DD): Full gene sequencing (Rapid testing) Panel
By CEN4GEN Institute for Genomics and Molecular Diagnostics
This panel specifically test the HBB gene.
More info about this panelHb C/ Beta0 thalassemia: Full gene sequencing (Rapid testing) Panel
By CEN4GEN Institute for Genomics and Molecular Diagnostics
This panel specifically test the HBB gene.
More info about this panelSickle hemoglobin E disease: Full gene sequencing (Rapid testing) Panel
By CEN4GEN Institute for Genomics and Molecular Diagnostics
This panel specifically test the HBB gene.
More info about this panelHb C disease (Hb CC): Full gene sequencing (Rapid testing) Panel
By CEN4GEN Institute for Genomics and Molecular Diagnostics
This panel specifically test the HBB gene.
More info about this panelHb Variant/Beta+ thalassemia: Full gene sequencing (Rapid testing) Panel
By CEN4GEN Institute for Genomics and Molecular Diagnostics
This panel specifically test the HBB gene.
More info about this panelHb S/Beta+ thalassemia: Full gene sequencing (Rapid testing) Panel
By CEN4GEN Institute for Genomics and Molecular Diagnostics
This panel specifically test the HBB gene.
More info about this panelHBB gene sequencing Panel
By Genetic Services Unit National Institute of Biomedical Genomics
This panel specifically test the HBB gene.
More info about this panelHbS Panel
By Genetic Services Unit National Institute of Biomedical Genomics
This panel specifically test the HBB gene.
More info about this panelIf you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like ALX3 TECRL