Hereditary Persistence Of Fetal Hemoglobin-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.
Genes related to Hereditary Persistence Of Fetal Hemoglobin-beta-thalassemia Syndrome
- HBB
- KLF1
- HBG1
- HBG2
Clinical Features
Phenotypes and symptoms related to Hereditary Persistence Of Fetal Hemoglobin-beta-thalassemia Syndrome
- Anemia
- Hepatomegaly
- Splenomegaly
- Pallor
- Persistence of hemoglobin F
- Abnormal bone structure
Incidence and onset information
— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)— No data available about the known clinical features onset.
Alternative names
Hereditary Persistence Of Fetal Hemoglobin-beta-thalassemia Syndrome Is also known as hpfh-beta-thalassemia syndrome.
Researches and researchers
Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.Hereditary Persistence Of Fetal Hemoglobin-beta-thalassemia Syndrome Recommended genes panels
Panel Name, Specifity and genes Tested/covered |
---|
MitoMet®Plus aCGH Analysis.
By Baylor Miraca Genetics Laboratories (United States).
RGS9, RHO, GRK1, RLBP1, RNASEL, BCS1L, RP1, RP2, RP9, RPE65, RPGR, RPL35A, MRPL3, RPS14, RS1, SAG, SARDH, SCO2, SCP2, SDHB , (...)
View the complete list with 612 more genes
Specificity
1 %
Genes
25 % |
Sickle Cell Disease Mutation Analysis.
By Baylor Miraca Genetics Laboratories (United States).
HBB
Specificity
100 %
Genes
25 % |
GeneAware Complete Panel Version 2 (Female).
By Baylor Miraca Genetics Laboratories (United States).
RMRP, BCS1L, SACS, BLM, SGCA, SGCB, SGCG, SGSH, SLC12A6, SLC17A5, SLC22A5, SLC25A13, SLC25A15, SLC26A2, SLC35A3, SLC7A7, SMN1, SMPD1, BTD, BTK , (...)
View the complete list with 139 more genes
Specificity
1 %
Genes
25 % |
GeneAware Complete Panel Version 2 (Male).
By Baylor Miraca Genetics Laboratories (United States).
RMRP, BCS1L, SACS, BLM, SGCA, SGCB, SGCG, SGSH, SLC12A6, SLC17A5, SLC22A5, SLC25A13, SLC25A15, SLC26A2, SLC35A3, SLC7A7, SMN1, SMPD1, BTD, TGM1 , (...)
View the complete list with 129 more genes
Specificity
1 %
Genes
25 % |
GeneAware Basic Panel Version 2 (Female).
By Baylor Miraca Genetics Laboratories (United States).
SMN1, CFTR, DMD, FMR1, HBA1, HBA2, HBB
Specificity
15 %
Genes
25 % |
GeneAware Basic Panel Version 2 (Male).
By Baylor Miraca Genetics Laboratories (United States).
SMN1, CFTR, HBA1, HBA2, HBB
Specificity
20 %
Genes
25 % |
GeneAware ACMG/ACOG Panel Version 2 (Male).
By Baylor Miraca Genetics Laboratories (United States).
BLM, SMN1, SMPD1, MCOLN1, CFTR, FANCC, GBA, HBA1, HBA2, HBB, HEXA, ELP1, ASPA
Specificity
8 %
Genes
25 % |
GeneAware ACMG/ACOG Panel Version 2 (Female).
By Baylor Miraca Genetics Laboratories (United States).
BLM, SMN1, SMPD1, MCOLN1, CFTR, DMD, FANCC, FMR1, GBA, HBA1, HBA2, HBB, HEXA, ELP1, ASPA
Specificity
7 %
Genes
25 % |
You can get up to 186 more panels with our dedicated tool
Learn moreSources and references
You can check the following sources for additional information.
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