Hemochromatosis, Type 2b; Hfe2b

Description

Juvenile, or type 2, hemochromatosis is an autosomal recessive inborn error of iron metabolism that leads to severe iron loading and organ failure before 30 years of age (summary by Roetto et al., 1999). HFE2B is caused by mutation in the HAMP gene (OMIM ). HFE2 is genetically heterogeneous (see HFE2A, {602390}).

Clinical Features

Top most frequent phenotypes and symptoms related to Hemochromatosis, Type 2b; Hfe2b

  • Anemia
  • Hepatomegaly
  • Cardiomyopathy
  • Congestive heart failure
  • Splenomegaly
  • Hypogonadism
  • Elevated hepatic transaminase
  • Cirrhosis
  • Increased serum ferritin
  • Increased serum iron

And another 1 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.)
— The onset for some of the known clinical features related to this disease may vary, including juvenile onset .

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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Hemochromatosis, Type 2b; Hfe2b Recommended genes panels

Panel Name, Specifity and genes Tested/covered
HAMP Sequencing.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).

HAMP
Specificity
100 %
Genes
100 %
Hyperferritinemia Panel.

By Molecular Genetics Laboratory Centro de Investigaciones Endocrinologicas "Dr. Cesar Bergada" (Argentina).

SEC23B, SLC40A1, TF, TFR2, HAMP, CDAN1, CP, STEAP3, SLC25A38, ALAS2, FTH1, FTL, HFE, HJV, B2M
Specificity
7 %
Genes
100 %
Hemochromatosis type 2B (sequence analysis of HAMP gene).

By CGC Genetics (Portugal).

HAMP
Specificity
100 %
Genes
100 %
Hemochromatosis (NGS panel for 8 genes).

By CGC Genetics (Portugal).

BMP2, SLC40A1, TFR2, HAMP, FTH1, FTL, HFE, HJV
Specificity
13 %
Genes
100 %
Hemochromatosis (NGS panel for 8 genes).

By CGC Genetics (Portugal).

BMP2, SLC40A1, TFR2, HAMP, FTH1, FTL, HFE, HJV
Specificity
13 %
Genes
100 %
HAMP Sequencing Analysis.

By Translational Metabolic Laboratory Radboud University Medical Centre (Netherlands).

HAMP
Specificity
100 %
Genes
100 %
Hereditary Hemochromatosis Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

SLC40A1, TFR2, HAMP, FTH1, FTL, HFE, HJV
Specificity
15 %
Genes
100 %
Juvenile Hereditary Hemochromatosis via HAMP Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

HAMP
Specificity
100 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

OMIM MESH Genetic Syndrome Finder

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