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.

Clinical Features

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

  • Anemia
  • Hepatomegaly
  • Abnormality of the skeletal system
  • Splenomegaly
  • Pulmonary arterial hypertension
  • Skin ulcer
  • Venous thrombosis
  • Cholelithiasis
  • Microcytic anemia
  • Increased serum ferritin

And another 2 symptoms. If you need more information about this disease we can help you.

Click here to know more about Mendelian.

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.

Researches and researchers

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

Beta-thalassemia Intermedia Experts map



Current Researchs and researchers

  • 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


Beta-thalassemia Intermedia Recommended genes panels

Panel Name, Specifity and genes Tested/covered
MitoMetĀ®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 %

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

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Sources and references

You can check the following sources for additional information.

ORPHANET Genetic Syndrome Finder

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