Hemochromatosis, Type 2a; Hfe2a

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. The common complications of iron overload, including liver cirrhosis, cardiac disease, endocrine failure, diabetes, arthropathy, and skin pigmentation, are similar to those of adult-onset hereditary hemochromatosis, but hypogonadism and cardiomyopathy are the most common symptoms at presentation. Heart failure and/or major arrhythmias are usually the cause of death in the absence of treatment. Early detection of the disorder is important because iron depletion by phlebotomy can prevent organ damage and all disease manifestations (summary by Roetto et al., 1999). Genetic Heterogeneity of Hemochromatosis Type 2Hemochromatosis type 2B (HFE2B ) is caused by mutation in the hepcidin gene (HAMP ) on chromosome 19q13.

Clinical Features

Top most frequent phenotypes and symptoms related to Hemochromatosis, Type 2a; Hfe2a

  • Pica
  • Muscle weakness
  • Myopathy
  • Nevus
  • Hepatomegaly
  • Pain
  • Hypertension
  • Tics
  • Splenomegaly
  • Cardiomyopathy
And another 27 symptoms. If you need more information about this disease we can help you.
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Incidence and onset information

Not enough data available about incidence and published cases.


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Hemochromatosis, Type 2a; Hfe2a 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 in United States.

HAMP
Specificity
100 %
Genes
50 %
Hyperferritinemia Panel.

By Molecular Genetics Laboratory London Health Sciences Centre in Canada.

HFE, ALAS2, SLC25A38, CDAN1, SEC23B, FTL, CP, SLC40A1, TFR2, HAMP, HJV, B2M, FTH1, STEAP3, TF
Specificity
14 %
Genes
100 %
Hemochromatosis type 2B (sequence analysis of HAMP gene).

By CGC Genetics in Portugal.

HAMP
Specificity
100 %
Genes
50 %
Hemochromatosis (NGS panel for 8 genes).

By CGC Genetics in Portugal.

HFE, FTL, SLC40A1, TFR2, HAMP, HJV, FTH1, BMP2
Specificity
25 %
Genes
100 %
Hemochromatosis (NGS panel for 8 genes).

By CGC Genetics in Portugal.

HFE, FTL, SLC40A1, TFR2, HAMP, HJV, FTH1, BMP2
Specificity
25 %
Genes
100 %
Hereditary Hemochromatosis Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

HFE, FTL, SLC40A1, TFR2, HAMP, HJV, FTH1
Specificity
29 %
Genes
100 %
Juvenile Hereditary Hemochromatosis via the HAMP Gene.

By PreventionGenetics PreventionGenetics in United States.

HAMP
Specificity
100 %
Genes
50 %
Hemochromatosis.

By Synlab MVZ Humane Genetik München Synlab MVZ Humane Genetik München in Germany.

HFE, SLC40A1, TFR2, HAMP, HJV
Specificity
40 %
Genes
100 %
Hemochromatosis type 2B.

By Centogene AG - the Rare Disease Company in Germany.

HAMP
Specificity
100 %
Genes
50 %
HAMP-Related Juvenile Hemochromatosis.

By Medical Genetics Laboratory Diagenom GmbH in Germany.

HAMP
Specificity
100 %
Genes
50 %
Genetic disorders with abnormal pigmentation Panel.

By CeGaT GmbH in Germany.

HFE, KRT5, ABCB6, BLM, PTPN11, NF2, STK11, NF1, EDN3, PAX3, EDNRB, SNAI2, SOX10, SPRED1, MITF, LYST, ADAR, KIT, KITLG, MYO5A , (...)

View the complete list with 12 more genes
Specificity
7 %
Genes
100 %
Haemochromatosis.

By Laboratory of Human Genetics GENOMED Health Care Center in Poland.

HFE, SLC40A1, TFR2, HAMP, HJV
Specificity
40 %
Genes
100 %
HAMP-Related Juvenile Hemochromatosis (type 2B).

By MVZ Dortmund Dr. Eberhard & Partner in Germany.

HAMP
Specificity
100 %
Genes
50 %
Hemochromatosis.

By Asper Biogene Asper Biogene LLC in Estonia.

HFE, SLC40A1, TFR2, HAMP, HJV
Specificity
40 %
Genes
100 %
NGS Panel for Hemochromatosis and Hyperferritinemia /Hypoferritinemia Panel.

By BLOODGENETICS BLOODGENETICS in Spain.

HFE, FTL, SLC40A1, TFR2, HAMP, HJV, FTH1, ATP4A, BMP6
Specificity
23 %
Genes
100 %
HAMP-Related Juvenile Hemochromatosis.

By Clinical Genomics Maastricht University Medical Centre in Netherlands.

HAMP
Specificity
100 %
Genes
50 %
Invitae Hereditary Hemochromatosis Panel.

By Invitae in United States.

HFE, SLC40A1, TFR2, HAMP, HJV
Specificity
40 %
Genes
100 %
Hemochromatosis type 2, Hereditary: HAMP gene sequence analysis.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

HAMP
Specificity
100 %
Genes
50 %
HAMP.

By Fulgent Genetics Fulgent Genetics in United States.

HAMP
Specificity
100 %
Genes
50 %
H-CHROMATON.

By PentaCoreLab in Hungary.

HFE, SLC40A1, HAMP, HJV
Specificity
50 %
Genes
100 %
Hereditary Hemochromatosis Panel.

By Blueprint Genetics in Finland.

HFE, SLC40A1, TFR2, HAMP, HJV
Specificity
40 %
Genes
100 %
Comprehensive Metabolism Panel.

By Blueprint Genetics in Finland.

HFE, MTHFR, MCCC1, MCCC2, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOA, ALDOB, FBP1, PC, GYS2, ARG1, HLCS, BTD, ATP7B , (...)

View the complete list with 414 more genes
Specificity
1 %
Genes
100 %
Hemochromatosis NGS and Deletion and Duplication Panel.

By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children in United States.

HFE, FTL, SLC40A1, TFR2, HAMP, HJV, FTH1
Specificity
29 %
Genes
100 %
HAMP Gene Sequencing and Deletion/Duplication Analysis.

By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children in United States.

HAMP
Specificity
100 %
Genes
50 %
Next Generation Sequencing for Jaundice Associated Genes Variation Test.

By National Taiwan University Hospital A1 Center National Taiwan University Hospital in Taiwan.

HFE, ABCB11, ABCB4, ATP7B, ATP8B1, BCS1L, TWNK, INVS, HBB, HNF1B, AMACR, JAG1, POLG, RRM2B, SLC25A13, DGUOK, MPV17, SUCLG1, ASS1, CYP27A1 , (...)

View the complete list with 53 more genes
Specificity
3 %
Genes
100 %
HEMOCHROMATOSIS TYPE 2.

By Laboratorio de Genetica Clinica SL in Spain.

HAMP, HJV
Specificity
100 %
Genes
100 %
Hemochromatosis Type 2, Sequencing HAMP Gene.

By Reference Laboratory Genetics in Spain.

HAMP
Specificity
100 %
Genes
50 %
Hereditary Hemochromatosis , Panel Massive Sequencing (NGS) 6 Genes.

By Reference Laboratory Genetics in Spain.

HFE, SLC40A1, TFR2, HAMP, HJV, FTH1
Specificity
34 %
Genes
100 %
Hemochromatosis type 2B.

By Labor Dr. Wisplinghoff in Germany.

HAMP
Specificity
100 %
Genes
50 %
Juvenile Hereditary Hemochromatosis: gene sequencing panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

HAMP, HJV
Specificity
100 %
Genes
100 %
HFE2 Sequencing.

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

HJV
Specificity
100 %
Genes
50 %
Juvenile Hemochromatosis.

By Molecular Diagnostic Laboratory University of Alberta in Canada.

HJV
Specificity
100 %
Genes
50 %
Hemochromatosis type 2A.

By Human Genetics University Hospital Bern in Switzerland.

HJV
Specificity
100 %
Genes
50 %
HFE2. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

HJV
Specificity
100 %
Genes
50 %
Juvenile Hereditary Hemochromatosis via HFE2 (HJV) Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

HJV
Specificity
100 %
Genes
50 %
Hemochromatosis type 2A.

By Centogene AG - the Rare Disease Company in Germany.

HJV
Specificity
100 %
Genes
50 %
HFE2 (HJV)-related Hemochromatosis.

By Medical Genetics Laboratory Diagenom GmbH in Germany.

HJV
Specificity
100 %
Genes
50 %
Single gene testing HFE2.

By CeGaT GmbH in Germany.

HJV
Specificity
100 %
Genes
50 %
Juvenile Hemochromatosis type 2A (HFE2, HJV).

By MVZ Dortmund Dr. Eberhard & Partner in Germany.

HJV
Specificity
100 %
Genes
50 %
HJV (HFE2)-Related Juvenile Hemochromatosis.

By Clinical Genomics Maastricht University Medical Centre in Netherlands.

HJV
Specificity
100 %
Genes
50 %
qCarrier Plus.

By Quantitative Genomic Medicine Laboratories, SL in Spain.

F2, F5, FMR1, MTHFR, MCCC1, MCCC2, ABCB11, ACADM, ACADS, AGL, ACADVL, ACAT1, AIPL1, ALDOB, USH1G, PC, USH1C, ARG1, HLCS, BTD , (...)

View the complete list with 280 more genes
Specificity
1 %
Genes
50 %
Hemochromatosis type 2, Hereditary: HJV gene sequence analysis.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

HJV
Specificity
100 %
Genes
50 %
HFE2.

By Fulgent Genetics Fulgent Genetics in United States.

HJV
Specificity
100 %
Genes
50 %
CarrierMap.

By Recombine in United States.

FMR1, MTHFR, MCCC1, MCCC2, ABCB11, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOB, PC, USH1C, ALPL, ARG1, HLCS, ATP7A, BTD, ATP7B, BCKDHA , (...)

View the complete list with 281 more genes
Specificity
1 %
Genes
50 %
HFE2 Gene Sequencing and Deletion/Duplication Analysis.

By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children in United States.

HJV
Specificity
100 %
Genes
50 %
Hemochromatosis type 2A.

By LifeLabs Genetics in Canada.

HJV
Specificity
100 %
Genes
50 %
Hemochromatosis Type 2, Sequencing HFE2 Gene.

By Reference Laboratory Genetics in Spain.

HJV
Specificity
100 %
Genes
50 %
Hemochromatosis type 2A.

By Labor Dr. Wisplinghoff in Germany.

HJV
Specificity
100 %
Genes
50 %

Alternate names

Hemochromatosis, Type 2a; Hfe2a Is also known as ;juvenile hemochromatosis.



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