Beta-thalassemia Major

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.

Clinical Features

Top most frequent phenotypes and symptoms related to Beta-thalassemia Major

  • Hearing impairment
  • Muscle weakness
  • Cataract
  • Anemia
  • Feeding difficulties
  • Visual impairment
  • Depressed nasal bridge
  • Hepatomegaly
  • Fever
  • Cardiomyopathy

And another 38 symptoms. If you need more information about this disease we can help you.

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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

Beta-thalassemia Major Is also known as cooley anemia, mediterranean anemia.

Researches and researchers

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

Beta-thalassemia Major Experts map



Current Researchs and researchers

  • 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::

      HSPathies: Role of HSP70 in normal and pathological erythropoiesis


  • GENOVA — Dr Gianluca FORNI

    Coordinator of expert centre - Principal investigator of clinical trial - Investigator of research project

    • Institution/s:
      — Dipartimento delle Medicine Generali, Specialistiche e di Pronto Soccorso, Ospedali Galliera
    • Research area/topic::

      Correction of Beta haemoglobinopathies after in situ gene tranfer by homologous recombination


  • MILANO — Pr Francesco CAVAGNINI

    Investigator of research project

    • Institution/s:
      — Ospedale San Luca, IRCCS Istituto Auxologico Italiano
    • Research area/topic::

      Evaluation of growth hormone secretion and adrenal reserve, in parallel with cardiac and osseous parametres, in adult patients with Thalassemia



Mendelian

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Beta-thalassemia Major 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
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
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
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 %

We have 163 more panels available in our App

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Sources and references

You can check the following sources for additional information.

ORPHANET Genetic Syndrome Finder

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