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.

Genes related to Hemochromatosis, Type 2a; Hfe2a

HAMP
HJV

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 Panel GTR000522378 complete gene list HFE, KRT5, ABCB6, BLM, PTPN11, NF2, STK11, NF1, EDN3, PAX3, EDNRB, SNAI2, SOX10, SPRED1, MITF, LYST, ADAR, KIT, KITLG, MYO5A, RAB27A, MLPH, KRT14, SLC40A1, EPG5, TFR2, HAMP, HJV, ENPP1, POGLUT1, POFUT1, ADAM10 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 Panel GTR000552745 complete gene list HFE, MTHFR, MCCC1, MCCC2, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOA, ALDOB, FBP1, PC, GYS2, ARG1, HLCS, BTD, ATP7B, AUH, BCKDHA, BCKDHB, BCS1L, TWNK, C12orf65, GAA, ADSL, HNF1A, MMACHC, PPARG, COL2A1, AMN, HNF1B, MTR, SLC37A4, SLC16A1, MTRR, AMACR, HSD17B4, CPS1, CPT2, OPA1, WFS1, PSAP, GNPTAB, GLB1, PRODH, ATP6V0A2, SRD5A3, GNE, HSD17B10, HPRT1, DLD, POLG, SLC25A4, GCK, FOXRED1, RRM2B, NDUFAF2, ALAS2, SLC25A13, MFN2, HADHA, OPA3, FH, SMPD1, COQ9, PDSS2, PDSS1, COQ6, DHODH, DDOST, LIAS, AGK, DNM1L, DGUOK, BOLA3, ACSF3, PDHB, TMEM70, DHDDS, SARS2, NFU1, PHKA2, FAH, HMGCL, TAT, PYGL, G6PC, IDH2, CAVIN1, PHKG2, TMEM126A, DPM3, PGM1, LDHA, ENO3, GAMT, GATM, SUCLA2, COQ8A, RFT1, GYS1, ACAD8, COG1, COG8, TUSC3, SLC25A3, PNPLA2, POLG2, CTSD, ACADSB, TK2, MPDU1, GFM1, HADHB, DPM1, COG7, ALG9, ATIC, ALG1, ALG8, ALG2, UCP2, COQ2, SPG7, ALG12, B4GALT1, GLUD1, PCCB, PCCA, HMGCS2, GCSH, GLDC, AMT, SLC35A1, ALG6, TYMP, MPI, ALG3, D2HGDH, AGPS, OTC, PDHA1, TIMM8A, TAZ, PHKA1, ABCD1, XDH, MMADHC, LMBRD1, TCN2, HEXA, GM2A, SUOX, ALDH5A1, HEXB, LPIN1, PHYH, SLC35C1, NT5C3A, ALDH7A1, CTSK, ACOX1, PHKB, PGAM2, PTS, QDPR, PAH, CUBN, GIF, AGXT, OAT, MPV17, CTSA, ISCU, CPT1A, GUSB, GALNS, GNS, HGSNAT, NAGLU, SGSH, MOCS2, MOCS1, NDUFS1, MCEE, MMAB, MMAA, MUT, HIBCH, DBT, MANBA, MAN2B1, MLYCD, SUCLG1, GALC, OXCT1, IVD, SLC25A15, NAGS, L2HGDH, CBS, PFKM, PYGM, GBE1, ETFB, ETFA, ETFDH, GCDH, GALT, GALE, GALK1, SLC3A1, ASS1, SLC22A5, SLC25A20, MGAT2, PMM2, APTX, ASL, GLRX5, TPP1, CLN3, FECH, PPOX, CPOX, SLC6A8, PDHX, ABCD4, ADA, AGA, AHCY, APRT, ARSB, SUGCT, DOLK, DPAGT1, MOGS, GNMT, HPD, PNP, ARSA, ASPA, GBA, DHCR7, GLA, HRAS, IDS, IDUA, LIPA, NPC1, NPC2, RAI1, SLC2A1, GPC3, CLN6, CLN8, FKTN, CTNS, PEX2, PPT1, PEX7, SERPINA1, SLC7A7, MCOLN1, PEX1, SLC17A5, SUMF1, ABCC8, CLN5, DPYD, LMNA, CLCN1, FKRP, CAV3, DYSF, SCN4A, GCH1, KCNJ11, CASR, PDX1, HNF4A, UMOD, SLC12A3, BSND, CLCNKB, ANO5, MYOT, LDB3, BSCL2, CACNA1S, RYR1, KCNJ2, KCNA1, ANO10, LAMA2, DPM2, NHLRC1, SLC35A2, FOLR1, EPM2A, ALG13, ASAH1, FLNA, MFSD8, ATP13A2, SAMHD1, KCNJ10, TCF4, RNASEH2A, RNASEH2C, RNASEH2B, TREX1, COL11A2, PRPS1, PEX6, FUCA1, PEX14, PEX19, PEX13, PEX3, PEX16, PEX26, PEX10, PEX12, PEX5, UROS, NEU1, SEC23B, HCFC1, LAMP2, MAGT1, EBP, NAGA, HYAL1, CTSC, ADAMTSL2, ANTXR2, DYM, GNPTG, CNNM4, CAV1, PRKAG2, FBXL4, AMPD1, MYH3, ZMPSTE24, IFIH1, ADAR, PGK1, CD320, GNPAT, TRIM37, NBAS, COG4, ALG11, COG6, COG5, TMEM165, SLC46A1, PCBD1, HADH, SLC2A2, AKT2, PTF1A, B3GLCT, TPMT, INSR, SLC39A4, SLC40A1, SI, TFR2, HAMP, HJV, LIPE, TBC1D4, PLIN1, AGPAT2, REN, SLC25A1, MAN1B1, FAM111A, SERAC1, CLPB, LIPT1, ECHS1, SLC30A10, ACY1, SLC6A19, COQ4, RBCK1, CLDN16, CLDN19, FLNB, PEPD, GYG1, PEX11B, SLC7A9, FXYD2, UMPS, HGD, LCT, FMO3, SLC5A1, UROD, TRPM6, HMBS, PCK1, GPHN, CNNM2, SSR4, EGF, NGLY1, STT3B, STT3A, ABCD3, ALAD, UPB1, DPYS, CTH, FLAD1, MOCOS, COQ7, COQ5, TANGO2, GMPPA, ADK, SLC25A26, SLC6A9, GLUL, NIPA2, PRKAG3 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 Panel GTR000558423 complete gene list HFE, ABCB11, ABCB4, ATP7B, ATP8B1, BCS1L, TWNK, INVS, HBB, HNF1B, AMACR, JAG1, POLG, RRM2B, SLC25A13, DGUOK, MPV17, SUCLG1, ASS1, CYP27A1, ASL, CFTR, LIPA, NPC1, NPC2, HBA1, G6PD, HBA2, SERPINA1, UGT1A1, PKHD1, PKD2, PKD1, CYP7B1, DCDC2, TJP2, ABCB1, TFAM, FTL, AKR1D1, SCO1, VPS33B, BAAT, SLC40A1, ABCC2, TFR2, PRKCSH, HAMP, HJV, CLDN1, EPHX1, SLC10A1, NOTCH2, HSD3B7, SLCO1B1, SLCO1B3, SEC63, CYP7A1, COPA, NR1H4, MYO5B, CD14, FOXM1, CHMP5, SLC51A, SLC51B, SLCO1A2, SLCO2B1, ABCC3, ABCC4, HES1, ONECUT1, FGF19 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 Panel GTR000552567 complete gene list F2, F5, FMR1, MTHFR, MCCC1, MCCC2, ABCB11, ACADM, ACADS, AGL, ACADVL, ACAT1, AIPL1, ALDOB, USH1G, PC, USH1C, ARG1, HLCS, BTD, ATP7B, BCKDHA, BCKDHB, GAA, HBB, RAX, TYRP1, SLC45A2, TYR, GPR143, MTRR, CPS1, CPT2, GNPTAB, GLB1, OCRL, ABCA4, NDP, CNGB3, TMEM67, NPHP1, CEP290, CLRN1, USH2A, PCDH15, DLD, SLC25A13, PANK2, HADHA, FH, TULP1, RPGR, RPE65, GUCY2D, CRB1, MECP2, SLC26A4, WHRN, CDH23, IDH3B, ACSF3, PDHB, DHDDS, PDE6A, CNGB1, RS1, FAH, HMGCL, TAT, G6PC, CNGA1, RDH12, SUCLA2, P3H1, HAX1, TUFM, TSFM, CTSD, ACADSB, CERKL, SPG7, PCCB, GLDC, AMT, EYS, ETHE1, MYO7A, AGPS, RP2, OTC, ACSL4, ABCD1, MMADHC, LMBRD1, HEXA, HEXB, ACOX1, PTS, PAH, AGXT, SURF1, CPT1A, GALNS, GNS, HGSNAT, NAGLU, SGSH, MCEE, MMAB, MUT, DBT, MAN2B1, MLYCD, SUCLG1, GALC, IVD, ALDH4A1, GBE1, ETFB, ETFA, ETFDH, GCDH, GALT, GALE, GALK1, FXN, LRPPRC, SLC3A1, ASS1, CYP27A1, SLC22A5, SLC25A20, PMM2, MKS1, BBS10, BBS1, BBS2, ASL, TPP1, CLN3, CYP17A1, SLC6A8, NR2E3, ABCD4, ADA, AGA, AHCY, ARSB, GNMT, IL2RG, AIRE, AR, ARSA, ASPA, ARX, CFTR, FANCC, GBA, DHCR7, DMD, GJB2, GLA, IDS, IDUA, LDLR, LIPA, NPC1, NPC2, PLOD1, PLP1, POU3F4, RMRP, SMN1, ATM, NBN, CLN6, CLN8, HBA1, LAMB3, FKTN, G6PD, NEB, CTNS, PROP1, NPHS1, PPT1, PEX7, SGCA, SGCB, SERPINA1, SACS, SLC26A2, UGT1A1, TH, GRHPR, MCOLN1, MPL, PEX1, TTPA, CAPN3, CLN5, LAMC2, PKHD1, TMEM216, NDRG1, SH3TC2, MTMR2, GDAP1, ZFYVE26, SPG11, AHI1, CLCN1, FKRP, DYSF, KCNJ11, GNRHR, CYP21A2, COL4A4, BSND, L1CAM, SPART, TNNT1, POMT2, POMT1, DCX, PQBP1, MFSD8, ATRX, IQSEC2, FGD1, GRIA3, PAK3, KDM5C, SYN1, OPHN1, CASK, CUL4B, OTOF, POLR1C, STRC, SLC4A11, TMPRSS3, PRPS1, TMC1, GJB3, PEX6, TMIE, TRIOBP, TPRN, AP1S2, NLGN4X, PEX10, MVK, PHF8, HUWE1, AFF2, UPF3B, USP9X, GDI1, FTSJ1, RPS6KA3, BRWD3, SLC16A2, IL1RAPL1, THOC2, TRDN, CASQ2, CHST6, DNAH5, PGK1, F11, THRB, JAK3, F9, F8, FANCA, ARL13B, EVC2, SLC46A1, PCBD1, LDLRAP1, CD40LG, SLC39A4, COL7A1, TFR2, HOGA1, HJV, PAX8, DUOXA2, DUOX2, SLC5A5, TPO, SLC6A19, WNT10A, HGD, HAL, CTH, ADK, FTCD, MPP3 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 Panel GTR000528277 complete gene list FMR1, MTHFR, MCCC1, MCCC2, ABCB11, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOB, PC, USH1C, ALPL, ARG1, HLCS, ATP7A, BTD, ATP7B, BCKDHA, BCKDHB, BCS1L, GAA, HBB, MMACHC, TYRP1, STAR, SLC45A2, CHM, TYR, SLC37A4, ABCA12, HSD17B4, CPT2, TRMU, GNPTAB, GLB1, GNE, OCRL, ABCA4, CYP1B1, CEP290, CLRN1, TRIM32, USH2A, PCDH15, DLD, POLG, CYP11B1, SLC25A13, HADHA, OPA3, FH, RPE65, RLBP1, GUCY2D, SMPD1, CYP11B2, SLC26A4, CDH23, HPS1, PDHB, HPS4, HPS3, DHDDS, RS1, FAH, HMGCL, HSD3B2, FAM161A, TAT, G6PC, GAMT, RDH12, RARS2, HAX1, HADHB, CERKL, PCCB, PCCA, GLDC, AMT, LCA5, ALG6, TYMP, MPI, ETHE1, MYO7A, PUS1, OTC, PDHA1, ABCD1, HEXA, ALDH3A2, HEXB, CTSK, ACOX1, PTS, PAH, AGXT, TCIRG1, MPV17, CPT1A, GUSB, GALNS, GNS, HGSNAT, NAGLU, SGSH, NDUFS6, MMAB, MMAA, MUT, DBT, MAN2B1, MLYCD, GALC, IVD, SLC25A15, CBS, CYBA, PFKM, PYGM, GBE1, ETFB, ETFA, ETFDH, GCDH, GALT, GALK1, LRPPRC, SLC3A1, ASS1, CYP27A1, SLC22A5, SLC25A20, PMM2, BBS12, MKS1, BBS10, BBS1, BBS2, ASL, TPP1, CYP17A1, NR2E3, ADA, AGA, ARSB, IL2RG, AIRE, AR, ARSA, ASPA, ELP1, CFTR, FANCC, GBA, BLM, DHCR7, DMD, GJB2, GLA, IDS, IDUA, LIPA, NPC1, NPC2, RMRP, SMN1, ATM, NBN, BRIP1, ADAMTS2, CHRNE, CLN6, CLN8, COL4A3, DOK7, HBA1, LAMB3, FKTN, MTTP, G6PD, HBA2, NEB, CTNS, CYBB, PEX2, NPHS2, PROP1, NPHS1, DCLRE1C, PPT1, PEX7, SGCA, SGCB, SERPINA1, SLC7A7, SACS, SLC26A2, SLC35A3, UGT1A1, TH, GRHPR, LAMA3, MLC1, MCOLN1, MPL, PEX1, POMGNT1, RTEL1, SGCG, SLC12A6, SLC17A5, SUMF1, TTPA, WAS, ABCC8, CAPN3, CLN5, EIF2B5, LAMC2, PHGDH, PKHD1, RAPSN, TGM1, TMEM216, GJB1, NTRK1, FKRP, DYSF, LHCGR, KCNJ11, CYP21A2, COL4A4, SLC12A3, BSND, COL4A5, MTM1, VRK1, EMD, SGCD, TSEN54, MFSD8, VPS13B, VPS13A, ATP6V1B1, MYO15A, SLC4A11, PRPS1, PEX6, LOXHD1, PEX10, CHRNG, RAB23, POR, EXOSC3, CTSC, LYST, DNAI2, DNAI1, ERCC6, TECPR2, MEFV, SRD5A2, F9, F8, FANCA, FANCG, EVC, EVC2, LPL, EIF2AK3, VSX2, RAG2, ERCC8, SLC39A4, COL7A1, CIITA, EDA, TTC37, TFR2, HOGA1, HJV, CYP19A1, AMH, AMHR2, ASNS, MED17, SEPSECS, WRN, XPA, LIFR, SLC7A9, XPC, GDF5, HGD, BCHE, SLC26A3, VPS53 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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