Beta-thalassemia

Table of contents:

Description
Related genes
Clinical Features
Incidence and onset information
Alternative Names
Researches and researchers
Gene Panels
Sources and references

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).

Genes related to Beta-thalassemia

HBB

View recommended genes panels

Clinical Features

Top most frequent phenotypes and symptoms related to Beta-thalassemia

Growth delay
Failure to thrive
Muscle weakness
Anemia
Feeding difficulties
Hepatomegaly
Fever
Fatigue
Abnormality of the skeletal system
Respiratory insufficiency

And another 32 symptoms. If you need more information about this disease we can help you.

Click here to know more about Mendelian.

Incidence and onset information

— Based on the latest data available BETA-THALASSEMIA have a estimated incidence of 1 per 100k in Europe.
— No data available about the known clinical features onset.

Researches and researchers

Doctors, researchs, and experts related to Beta-thalassemia extracted from public data.

Beta-thalassemia Experts map

Current Researchs and researchers

NICOSIA — Pr Marina KLEANTHOUS
Responsible for diagnostic tests - Coordinator of research network - Director of laboratory - Director of department - Quality manager
- Institution/s:
  — Department of molecular genetics A, The Cyprus Institute of Neurology and Genetics
- Research area/topic::
  ITHANET: Euromediterranean network of research centres conducting molecular and clinical research of thalassaemia and related haemoglobinopathies

FONTENAY-AUX-ROSES — Dr Philippe LEBOULCH
Investigator of research project
- Institution/s:
  — Institut des Maladies Emergentes et des Thérapies Innovantes, CEA - Commissariat à l'Energie Atomique
- Research area/topic::
  GETHERTHALPLUS : Novel Gene Therapy for Thalassemia: Pre-clinical Development and Assessment in Animal and Stem Cell Models - FR

LYON — Dr Els VERHOEYEN
Investigator of research project
- Institution/s:
  — CIRI
- Research area/topic::
  GETHERTHALPLUS : Novel Gene Therapy for Thalassemia: Pre-clinical Development and Assessment in Animal and Stem Cell Models - FR

PARIS — Dr Thierry LEBLANC
Coordinator of expert centre - Clinical expert - Investigator of research project - Contact person of registry
- Institution/s:
  — Pôle de pédiatrie médicale, CHU Paris - Hôpital Robert Debré
  — CHU Paris - Hôpital Robert Debré
  — CHU Paris-GH St-Louis Lariboisière F.Widal - Hôpital Saint-Louis
- Research area/topic::
  Constitutive hematologic diseases: clinical and therapeutic research, molecular biology

PARIS — Pr Olivier HERMINE
Coordinator of expert centre - Clinical expert - Principal investigator of clinical trial - Investigator of research project - Coordinator of research network
- Institution/s:
  — CHU Paris - Hôpital Necker-Enfants Malades
  — Institut Imagine - INSERM U1163, IMAGINE - Institut des Maladies Génétiques
  — IMAGINE - Institut des Maladies Génétiques
- Research area/topic::
  TIEBET: TGF-Beta Signaling And Ineffective Erythropoiesis Of Beta-Thalassemia - FR

PARIS — Dr Annarita MICCIO
Investigator of research project
- Institution/s:
  — Institut Imagine - INSERM U1163, IMAGINE - Institut des Maladies Génétiques
- Research area/topic::
  GETH: Genome Editing approaches to reactivate gamma-globin for the Treatment of ß-Hemoglobinopathies

HEIDELBERG — Dr Manfred SCHMIDT
Investigator of research project
- Institution/s:
  — Nationales Centrum für Tumorerkrankungen (NCT)
- Research area/topic::
  GETHERTHALPLUS: Novel Gene Therapy for Thalassemia: Pre-clinical Development and Assessment in Animal and Stem Cell Models - DE (partner no 2)

ATHENS — Mr Nicholas P ANAGNOU
Investigator of research project - Coordinator of research network
- Institution/s:
  — University of Athens - Medical school
- Research area/topic::
  GETHERTHALPLUS: Novel Gene Therapy for Thalassemia: Pre-clinical Development and Assessment in Animal and Stem Cell Models

BARI — Pr Adriana CECI
Investigator of research project - Coordinator of research network
- Institution/s:
  — Università degli Studi di Bari Aldo Moro
  — Fondazione per la Ricerca Farmacologica Gianni Benzi
- Research area/topic::
  DEEP: DEferiprone Evaluation in Paediatrics

BRESCIA — Dr Maura POLI
Investigator of research project
- Institution/s:
  — Dipartimento Scienze Mediche e Chirurgiche - Clinica Medica - Medicina 1 e 2, ASST Spedali Civili di Brescia
- Research area/topic::
  Novel pharmacologic approaches to hepcidin genetic disorders

FERRARA — Pr Roberto GAMBARI
Investigator of research project - Coordinator of research network
- Institution/s:
  — Dipartimento di Biochimica e Biologia Molecolare - Sez. di Biologia Molecolare, Università degli Studi di Ferrara
- Research area/topic::
  Modifiers of globin gene expression for therapy of beta-thalassemia

MILANO — Dr Eugenio MONTINI
Principal investigator of clinical trial - Investigator of research project
- Institution/s:
  — Dipartimento di Biotecnologie - Divisione di Neuroscienze, IRCCS Ospedale San Raffaele
- Research area/topic::
  Vector safety studies

MILANO — Pr Giuliana FERRARI
Investigator of research project
- Institution/s:
  — Istituto San Raffaele Telethon per la Terapia Genica - TIGET
- Research area/topic::
  Gene therapy for betathal

MONSERRATO — Dr Maria Serafina RISTALDI
Investigator of research project
- Institution/s:
  — IRGB CNR - Istituto di Ricerca Genetica e Biomedica
- Research area/topic::
  Validation of the human delta globin gene as a therapeutic target for beta thalassemia and sickle cell disease

VALENZANO — Pr Adriana CECI
Investigator of research project - Coordinator of research network
- Institution/s:
  — Università degli Studi di Bari Aldo Moro
  — Fondazione per la Ricerca Farmacologica Gianni Benzi
- Research area/topic::
  DEEP: DEferiprone Evaluation in Paediatrics

ROTTERDAM — Pr F.G. [Frank] GROSVELD
Investigator of research project - Director of laboratory
- Institution/s:
  — p/a Afdeling Celbiologie, Erasmus MC - Erasmus Medisch Centrum
  — Afdeling Klinische Genetica - Sectie Genetische Metabole Ziekten, Erasmus MC - Erasmus Medisch Centrum
- Research area/topic::
  THALAMOSS: THALAssaemia MOdular Stratification System for personalized therapy of beta-thalassemia - NL

ROTTERDAM — Pr J.N.J. [Sjaak] PHILIPSEN
Investigator of research project
- Institution/s:
  — Erasmus MC - Erasmus Medisch Centrum
- Research area/topic::
  THALAMOSS: THALAssaemia MOdular Stratification System for personalized therapy of beta-thalassemia - NL

BUCURESTI — Dr Daniel CORIU
Investigator of research project
- Institution/s:
  — University of Medicine "Carol Davila" Bucharest, Fundeni Clinical Institute
- Research area/topic::
  Identification and molecular characterization of mutations that encode the beta globin chain in patients with thalassemia in Romania

Beta-thalassemia 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 Panel complete gene list RGS9, RHO, GRK1, RLBP1, RNASEL, BCS1L, RP1, RP2, RP9, RPE65, RPGR, RPL35A, MRPL3, RPS14, RS1, SAG, SARDH, SCO2, SCP2, SDHB, SDHC, SEMA4A, SGSH, SHH, SIX6, FOXL2, SLC16A1, SLC22A4, SLC22A5, SLC24A1, SLC25A12, SLC25A13, SLC25A15, SLC25A3, SLC25A4, BRCA1, SLC34A1, SLC35A1, SLC3A1, SLC9A3R1, SLC9A6, SMPD1, SNCB, SOD1, SOD2, SOX2, BTD, SPG7, SPR, SPTLC2, SQSTM1, STAR, STAT1, STAT3, STXBP1, SUCLA2, SUCLG1, SUOX, SURF1, TAT, TAZ, TWNK, HNF1A, HNF1B, ZEB1, TCIRG1, TCN2, TEAD1, TGFB1, TGFBI, ACO2, TIMM8A, TIMP3, TK2, TLR3, TLR4, ACOX1, TNFRSF11A, TNFRSF11B, TNFSF11, TP53, TSFM, TUFM, TULP1, TYR, TYROBP, TYRP1, UBE3A, UCP1, UCP2, UCP3, UNG, UQCRB, USH1C, USH2A, CLRN1, VCP, VHL, BEST1, VSX1, WFS1, WT1, WWOX, XDH, ARL6, LPIN1, RPGRIP1, CA2, CDH23, CA4, SOST, GFM1, CABP4, CACNA1F, MRPS16, ELAC2, SLC25A20, C1QTNF5, HTRA2, SLC25A19, ELOVL4, MRPS22, CDHR1, PINK1, AMN, ABCA12, FYCO1, PCDH15, CASP8, CAT, PRPF31, ANKH, CBS, PUS1, HPS3, KLHL7, ALG9, LRPPRC, HPS4, PRPF6, ABHD12, PANK2, NDUFAF5, RP1L1, APTX, COX4I2, NFU1, USH1G, WHRN, PARK7, TRIM32, LIAS, SLC45A2, KIF1B, MCEE, COQ8A, MFN2, HAX1, HPS5, OPTN, NDUFA13, RIMS1, RRM2B, SP7, DTNBP1, PRPF8, AASS, ADGRV1, SARS2, PDSS1, NT5C3A, INVS, NAGS, MFRP, FKBP10, ALG1, IMPG2, ATP6V0A2, COG7, COG8, RAX, BBS7, ATPAF2, HPS6, NDUFAF1, MMAA, NPHP4, CHAT, MTO1, P3H1, MMAB, KIF21A, ALG12, CHM, RD3, KCNV2, SLC25A22, RDH12, CYCS, TTC8, GLRX5, GPR143, SLC35C1, CACNA2D4, COQ6, CLCN7, NUBPL, NDUFA11, SPATA7, L2HGDH, DHDDS, TPP1, CLN3, TUBA1A, TUBB3, SLC39A13, BCOR, BLOC1S3, AARS2, NDUFAF4, PITPNM3, ABHD5, RARS2, INPP5E, CNGA1, ACAD9, CNGA3, CNGB1, DIABLO, CNGB3, EYS, ADAM9, TSPAN12, OSTM1, TOPORS, CERKL, AGK, COL1A2, COL3A1, COL5A1, COL5A2, FAM20C, COX15, COX6B1, ABAT, LMBRD1, PDSS2, ALG3, ALG6, ALG2, ALG8, CYP4V2, CPOX, CPT1A, ETHE1, CPT2, CRB1, GNE, CRTAP, CRX, CRYAB, NDUFA12, CISD2, GLYCTK, YARS2, BOLA3, DMGDH, MMACHC, FLVCR1, MMADHC, COQ2, CCDC39, CTSD, COQ9, CTSK, TMEM126A, CUBN, TRMU, MTPAP, DARS2, CYB5A, CYBA, REEP1, FAM161A, SRD5A3, CYP11A1, CYP11B1, CYP11B2, CYP17A1, CYP1B1, TTC19, CYP24A1, SDHAF2, TMEM127, CYP27A1, TMEM70, SLC25A38, CYP27B1, PDZD7, BBS10, ZNF513, HGSNAT, BBS12, C12orf65, AMER1, FOXRED1, DBT, C8orf37, DDOST, ACSF3, MSRB3, XPNPEP3, NDUFAF2, CCDC28B, COX14, D2HGDH, TMEM67, DGUOK, NDUFAF6, DHODH, CYB5R3, LEMD3, IQCB1, DLAT, DLD, CEP290, ADSL, FASTKD2, ANKRD26, CC2D2A, UQCRQ, GNPTAB, DNM1L, ISCU, NDUFAF3, BBS9, PPARGC1B, DPM1, DPM3, RFT1, TUSC3, RILP, DSP, DNAJC19, STRA6, PNPLA2, SNRNP200, SECISBP2, TYMP, AFG3L2, LCA5, AGL, EFEMP1, PRCD, AGPS, ELN, ENO3, SDHAF1, ABCA4, AGXT, PCARE, ETFA, ETFB, ETFDH, EYA1, EYA4, ACSL4, FAH, AIPL1, FBLN5, FBN1, FBP1, AK1, AK2, FECH, AKAP10, FH, ATP8B1, FOXC1, FXN, FSCN2, ALAS2, ALDH3A2, FZD4, G6PC, ALDH4A1, SLC37A4, GAA, ALDH5A1, GAD1, GALC, GALE, GALK1, GALNS, GALT, GAMT, ALDOA, GARS, ALDOB, GATM, GBE1, GCDH, GCK, GCKR, ABCB11, OPN1MW, GCSH, GFER, CBLIF, GJA3, ALMS1, GK, GLB1, TAP1, GLDC, GLUD1, GM2A, GNAT1, GNAT2, GNS, GOT1, GPD1, GPD2, GPI, ABCB4, AMACR, GPX1, GRM6, GRN, GSN, GUCA1A, GUCA1B, GUCY2D, GUSB, ABCB6, GYS1, GYS2, AMT, ABCB7, HSD17B10, HADHA, HADHB, HAGH, HARS, HBB, HCCS, HESX1, HEXA, HEXB, HIBCH, HK1, HLCS, HMGCL, HMGCS2, HP, HPRT1, HPS1, HSD17B4, HSD3B2, HSPD1, IDH2, IDH3B, AP3B1, IMPDH1, ABCD1, IVD, JAG1, APP, KARS, KCNJ13, KRT12, KRT3, KRT5, LDHA, LDHB, COG1, ARG1, LMX1B, LRAT, LRP5, MAN2B1, MANBA, MAOA, PHOX2A, MC1R, MCCC1, MCCC2, ME2, MECP2, MEF2A, MEN1, MERTK, MGAT2, MKKS, MKS1, TRPM1, MLYCD, ALDH6A1, MOCS1, MOCS2, MPDU1, MPI, MPV17, SEPT9, MTHFR, ASL, MTR, MTRR, MMUT, MUTYH, ASS1, MYO7A, MYOC, NAGLU, NCOA4, NDP, NDUFA1, NDUFA10, NDUFA2, NDUFA9, NDUFB3, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NEFH, NEUROD1, ZFHX3, NHS, NME1, NPHP1, NPHP3, ATIC, NRL, FRMD7, NYX, OAT, OCA2, OCRL, OGDH, OGG1, OPA1, OPA3, ATP5F1E, ACACA, OTC, OTX2, OXCT1, PAH, PRKN, PAX2, PAX6, PC, PCCA, PCCB, ATP7A, ACAD8, ATP7B, PCK2, AIFM1, ALDH7A1, PDE6A, PDE6B, PDE6C, PDE6G, PDHA1, PDHB, SLC26A4, SERPINF1, PFKM, PGAM2, ACADM, AUH, PGM1, PHB, PHKA1, PHKA2, PHKB, PHKG2, PHYH, ACADS, PITX2, PITX3, PLA2G2A, PLOD2, PLOD3, ACADSB, PMM2, PNKD, POLG, POLG2, ACADVL, PPARG, B4GALT1, CTSA, PPIB, PDP1, PPOX, ACAT1, B4GALT7, PPP2R1B, ACAT2, PRKCG, PRODH, PROM1, PSAP, PSEN1, BBS1, BBS2, CAVIN1, PTS, BBS4, BBS5, PYCR1, ALDH18A1, PYGL, PYGM, QDPR, RAF1, BCKDHA, BCKDHB, RB1, OPN1LW, RDH5, PRPH2, RET, RGR Specificity 1 % Genes 100 %
Sickle Cell Disease Mutation Analysis. By Baylor Miraca Genetics Laboratories (United States). HBB Specificity 100 % Genes 100 %
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 Panel complete gene list RMRP, BCS1L, SACS, BLM, SGCA, SGCB, SGCG, SGSH, SLC12A6, SLC17A5, SLC22A5, SLC25A13, SLC25A15, SLC26A2, SLC35A3, SLC7A7, SMN1, SMPD1, BTD, BTK, TGM1, TH, TTPA, UBE3A, UGT1A1, USH1C, USH2A, CLRN1, WAS, MCOLN1, NPHS2, CDH23, PCDH15, CAPN3, CBS, HPS3, LRPPRC, RTEL1, MLC1, DCLRE1C, ADA, CFTR, CHAT, POMGNT1, CHRNE, SUMF1, DHDDS, TPP1, CLN3, CLN5, CLN6, CLN8, ADAMTS2, COL4A3, CPT1A, ETHE1, CPT2, GNE, MMACHC, TMEM216, CTNS, CTSK, CYBB, CYP1B1, CYP27A1, BBS10, DOK7, DBT, DHCR7, DLD, DMD, GNPTAB, DPYD, AGA, AGL, EIF2B5, AGXT, FAH, FANCC, FKTN, FH, FMR1, ALDH3A2, G6PC, G6PD, SLC37A4, GAA, GALC, GALT, ALDOB, GBA, GCDH, GJB2, GJB6, GLB1, GLDC, ALPL, GRHPR, AMT, HADHA, HBA1, HBA2, HBB, HEXA, HEXB, HMGCL, HSD17B4, IDUA, ABCC8, ELP1, IL2RG, ABCD1, IVD, LAMA3, LAMB3, LAMC2, MAN2B1, MECP2, ARSA, MPI, MPL, ASL, MTTP, ASPA, ASS1, MYO7A, NBN, NEB, NPC1, NPHP1, NPHS1, ATM, OCRL, OTC, PAH, PC, PCCA, PCCB, ATP7B, SLC26A4, PEX1, PEX7, ACADM, PHGDH, SERPINA1, PKHD1, PLA2G6, PMM2, POLG, ACADVL, PPT1, PROP1, BBS1, BBS2, PTS, PEX2, BCKDHA, RAPSN, BCKDHB Specificity 1 % Genes 100 %
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 Panel complete gene list RMRP, BCS1L, SACS, BLM, SGCA, SGCB, SGCG, SGSH, SLC12A6, SLC17A5, SLC22A5, SLC25A13, SLC25A15, SLC26A2, SLC35A3, SLC7A7, SMN1, SMPD1, BTD, TGM1, TH, TTPA, UBE3A, UGT1A1, USH1C, USH2A, CLRN1, WAS, MCOLN1, NPHS2, CDH23, PCDH15, CAPN3, CBS, HPS3, LRPPRC, RTEL1, MLC1, DCLRE1C, ADA, CFTR, CHAT, POMGNT1, CHRNE, SUMF1, DHDDS, TPP1, CLN3, CLN5, CLN6, CLN8, ADAMTS2, COL4A3, CPT1A, ETHE1, CPT2, GNE, MMACHC, TMEM216, CTNS, CTSK, CYP1B1, CYP27A1, BBS10, DOK7, DBT, DHCR7, DLD, GNPTAB, DPYD, AGA, AGL, EIF2B5, AGXT, FAH, FANCC, FKTN, FH, ALDH3A2, G6PC, SLC37A4, GAA, GALC, GALT, ALDOB, GBA, GCDH, GJB2, GJB6, GLB1, GLDC, ALPL, GRHPR, AMT, HADHA, HBA1, HBA2, HBB, HEXA, HEXB, HMGCL, HSD17B4, IDUA, ABCC8, ELP1, IVD, LAMA3, LAMB3, LAMC2, MAN2B1, ARSA, MPI, MPL, ASL, MTTP, ASPA, ASS1, MYO7A, NBN, NEB, NPC1, NPHP1, NPHS1, ATM, PAH, PC, PCCA, PCCB, ATP7B, SLC26A4, PEX1, PEX7, ACADM, PHGDH, SERPINA1, PKHD1, PLA2G6, PMM2, POLG, ACADVL, PPT1, PROP1, BBS1, BBS2, PTS, PEX2, BCKDHA, RAPSN, BCKDHB Specificity 1 % Genes 100 %
GeneAware Basic Panel Version 2 (Female). By Baylor Miraca Genetics Laboratories (United States). SMN1, CFTR, DMD, FMR1, HBA1, HBA2, HBB Specificity 15 % Genes 100 %
GeneAware Basic Panel Version 2 (Male). By Baylor Miraca Genetics Laboratories (United States). SMN1, CFTR, HBA1, HBA2, HBB Specificity 20 % Genes 100 %
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 100 %
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 100 %

You can get up to 163 more panels with our dedicated tool

Sources and references

You can check the following sources for additional information.

OMIM ORPHANET Rare Disease Symptoms Checker

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like OSTEOGENESIS IMPERFECTA, TYPE IV; OI4 CHIARI MALFORMATION TYPE II HYPEROXALURIA, PRIMARY, TYPE III; HP3 WILLIAMS-BEUREN SYNDROME; WBS ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3; EEC3 SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY; SRTD7