Hemochromatosis, Type 3; Hfe3

Description

Type 3 hemochromatosis is a form of rare hereditary hemochromatosis (HH) (see this term), a group of diseases characterized by excessive tissue iron deposition of genetic origin.

Clinical Features

Top most frequent phenotypes and symptoms related to Hemochromatosis, Type 3; Hfe3

  • Anemia
  • Cardiomyopathy
  • Fatigue
  • Elevated hepatic transaminase
  • Arthritis
  • Cirrhosis
  • Neutropenia
  • Amenorrhea
  • Hyperpigmentation of the skin
  • Lymphopenia
And another 4 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 3; Hfe3 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
TFR2 Sequencing.

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

TFR2
Specificity
100 %
Genes
100 %
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
7 %
Genes
100 %
TFR2. Detection of the mutations p.Arg30ProfsX31, p.Met172Lys, p.Tyr250X and p.Ala621_Gln624del by sequencing.

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

TFR2
Specificity
100 %
Genes
100 %
TFR2. Complete sequencing.

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

TFR2
Specificity
100 %
Genes
100 %
Hemochromatosis (sequence analysis of TFR2 gene).

By CGC Genetics in Portugal.

TFR2
Specificity
100 %
Genes
100 %
Hemochromatosis (NGS panel for 8 genes).

By CGC Genetics in Portugal.

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

By CGC Genetics in Portugal.

HFE, FTL, SLC40A1, TFR2, HAMP, HJV, FTH1, BMP2
Specificity
13 %
Genes
100 %
Hereditary Hemochromatosis Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

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

By PreventionGenetics PreventionGenetics in United States.

TFR2
Specificity
100 %
Genes
100 %
Hemochromatosis.

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

HFE, SLC40A1, TFR2, HAMP, HJV
Specificity
20 %
Genes
100 %
Hemochromatosis type 3.

By Centogene AG - the Rare Disease Company in Germany.

TFR2
Specificity
100 %
Genes
100 %
TFR2-Related Hereditary Hemochromatosis.

By Medical Genetics Laboratory Diagenom GmbH in Germany.

TFR2
Specificity
100 %
Genes
100 %
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
4 %
Genes
100 %
Haemochromatosis.

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

HFE, SLC40A1, TFR2, HAMP, HJV
Specificity
20 %
Genes
100 %
TFR2-Related Hereditary Hemochromatosis (HH type 3, HFE3).

By MVZ Dortmund Dr. Eberhard & Partner in Germany.

TFR2
Specificity
100 %
Genes
100 %
Hemochromatosis.

By Asper Biogene Asper Biogene LLC in Estonia.

HFE, SLC40A1, TFR2, HAMP, HJV
Specificity
20 %
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
12 %
Genes
100 %
TFR2-Related Hereditary Hemochromatosis.

By Clinical Genomics Maastricht University Medical Centre in Netherlands.

TFR2
Specificity
100 %
Genes
100 %
Hemochromatosis.

By Praxis fuer Humangenetik Wien in Austria.

TFR2
Specificity
100 %
Genes
100 %
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
100 %
Hemochromatosis.

By MedGene in Slovakia.

TFR2
Specificity
100 %
Genes
100 %
Invitae Hereditary Hemochromatosis Panel.

By Invitae in United States.

HFE, SLC40A1, TFR2, HAMP, HJV
Specificity
20 %
Genes
100 %
Hemochromatosis type 3, Hereditary: TFR2 gene, Y250X mutation.

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

TFR2
Specificity
100 %
Genes
100 %
Hemochromatosis type 3, Hereditary: TFR2 gene mutation screening.

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

TFR2
Specificity
100 %
Genes
100 %
Hemochromatosis type 3, Hereditary: TFR2 gene sequence analysis.

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

TFR2
Specificity
100 %
Genes
100 %
TFR2.

By Fulgent Genetics Fulgent Genetics in United States.

TFR2
Specificity
100 %
Genes
100 %
Hereditary Hemochromatosis Panel.

By Blueprint Genetics in Finland.

HFE, SLC40A1, TFR2, HAMP, HJV
Specificity
20 %
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 type 3.

By Bioarray in Spain.

TFR2
Specificity
100 %
Genes
100 %
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
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
15 %
Genes
100 %
TFR2 Gene Sequencing and Deletion/Duplication Analysis.

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

TFR2
Specificity
100 %
Genes
100 %
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
2 %
Genes
100 %
HEMOCHROMATOSIS TYPE 3.

By Laboratorio de Genetica Clinica SL in Spain.

TFR2
Specificity
100 %
Genes
100 %
Hemochromatosis type 3.

By LifeLabs Genetics in Canada.

TFR2
Specificity
100 %
Genes
100 %
Hemochromatosis Type 3 , Sequencing TFR2 Gene.

By Reference Laboratory Genetics in Spain.

TFR2
Specificity
100 %
Genes
100 %
Hemochromatosis Type 3, Mutation (Y250X) TFR2 Gene.

By Reference Laboratory Genetics in Spain.

TFR2
Specificity
100 %
Genes
100 %
Hemochromatosis Type 3 , Screening Mutations TFR2 Gene.

By Reference Laboratory Genetics in Spain.

TFR2
Specificity
100 %
Genes
100 %
Hereditary Hemochromatosis , Panel Massive Sequencing (NGS) 6 Genes.

By Reference Laboratory Genetics in Spain.

HFE, SLC40A1, TFR2, HAMP, HJV, FTH1
Specificity
17 %
Genes
100 %
Hemochromatosis type 3.

By Labor Dr. Wisplinghoff in Germany.

TFR2
Specificity
100 %
Genes
100 %
TFR2-Related Hereditary Hemochromatosis: gene sequencing.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

TFR2
Specificity
100 %
Genes
100 %

Alternate names

Hemochromatosis, Type 3; Hfe3 Is also known as hemochromatosis due to defect in transferrin receptor 2;tfr2-related hemochromatosis.



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