Hemochromatosis, Type 2b; Hfe2b

Table of contents:

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

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}).

Genes related to Hemochromatosis, Type 2b; Hfe2b

HAMP

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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

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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.

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 Rare Disease Symptoms Checker

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