Hb Bart's Hydrops Fetalis

Description

Hb Bart's hydrops fetalis is the most severe form of alpha-thalassemia (see this term) and is almost always lethal. It is characterized by fetal onset of generalized edema, pleural and pericardial effusions, and severe hypochromic anemia.

Clinical Features

Top most frequent phenotypes and symptoms related to Hb Bart's Hydrops Fetalis

  • Anemia
  • Hepatomegaly
  • Hydrocephalus
  • Congestive heart failure
  • Splenomegaly
  • Polyhydramnios
  • Pallor
  • Oligohydramnios
  • Hydrops fetalis
  • Pericarditis

And another 2 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

Hb Bart's Hydrops Fetalis Is also known as alpha-thalassemia major, alpha-thalassemia hydrops fetalis, homozygous alpha0-thalassemia, hemoglobin bart's hydrops fetalis.

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.


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Hb Bart's Hydrops Fetalis Recommended genes panels

Panel Name, Specifity and genes Tested/covered
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
2 %
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
2 %
Genes
100 %
GeneAware Basic Panel Version 2 (Female).

By Baylor Miraca Genetics Laboratories (United States).

SMN1, CFTR, DMD, FMR1, HBA1, HBA2, HBB
Specificity
29 %
Genes
100 %
GeneAware Basic Panel Version 2 (Male).

By Baylor Miraca Genetics Laboratories (United States).

SMN1, CFTR, HBA1, HBA2, HBB
Specificity
40 %
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
16 %
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
14 %
Genes
100 %
Alpha Globin Gene Sequencing.

By UCSF Molecular Diagnostics Laboratory University of California, San Francisco (United States).

HBA1, HBA2
Specificity
100 %
Genes
100 %
Alpha Thalassemia.

By UCSF Molecular Diagnostics Laboratory University of California, San Francisco (United States).

HBA1, HBA2
Specificity
100 %
Genes
100 %

We have 80 more panels available in our App

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Sources and references

You can check the following sources for additional information.

ORPHANET Rare Disease Search Engine

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