Disease #00534 (HFE3 (hemochromatosis, type 3 (HFE-3)), OMIM:604250)

Official abbreviation HFE3
Name hemochromatosis, type 3 (HFE-3)
OMIM ID 604250
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal recessive
Individuals reported having this disease 14
Phenotype entries for this disease 14
Associated with 1 gene TFR2
Associated tissues -
Disease features -
Remarks -
Date created 2014-09-22 23:15:19 +02:00 (CEST)
Date last edited 2021-12-10 21:51:32 +01:00 (CET)


Individuals

14 entries on 1 page. Showing entries 1 - 14.
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00019853 18450729-Pat PubMed: Gerolami 2008, Journal: Gerolami 2008 - F - Italy - - - - - HFE3 iron overload and astheny TFR2 TFR2 2 2 Mayka Sanchez
00019854 26029709_Fam1 PubMed: Joshi 2015, Journal: Joshi 2015 3-generation family, 2 affecteds (2F), unaffected heterozygous carrier parents/relatives F - Spain - - - - - HFE3 see paper; ... TFR2 TFR2 1 4 Mayka Sanchez
00019855 26029709_Fam2 PubMed: Joshi 2015, Journal: Joshi 2015 2-generation family, 1 affected, unaffected heterozygous carrier parents/sibs F no Spain - - - - - HFE3 see paper; ... TFR2 TFR2 2 4 Mayka Sanchez
00019856 26029709_Fam3 PubMed: Joshi 2015, Journal: Joshi 2015 2-generation family, 1 affected, unaffected heterozygous carrier parents/sibs M no Spain - - - - - HFE3 see paper; ... TFR2 TFR2 2 1 Mayka Sanchez
00024118 - PubMed: Lee and Barton 2006 - M - United Kingdom (Great Britain) White of Scottish descent - - - 34 units of 500ml at weekly phlebotomy (reported as 6.8g Fe removed) HFE3 hemochromatosis, severe iron overload; see paper ALAS2, HAMP, HFE, SLC40A1, TFR2 HFE, TFR2 4 1 Ann Walker
00024226 - - - F no Italy white >27y - - Weekly phlebotomy HFE3 - TFR2 TFR2 2 1 Giulia Ravasi
00024227 - - - F no Chile Chilean - - - - HFE3 - TFR2 TFR2 2 1 Giulia Ravasi
00024229 - - - F no Italy Italian - - - - HFE3 - TFR2 TFR2 1 1 Giulia Ravasi
00024958 - PubMed: Camaschella 2000, Journal: Camaschella 2000, PubMed: Roetto 2001 7-generation family, 6 affecteds, (2F, 4M), unaffected heterozygous carriers - yes Italy Italina, Sicily - - - - HFE3 see paper; all patients had increased transferrin saturation and serum ferritin and most had disease-related clinical complications; affected siblings had skin pigmentation and abnormal liver function tests; PatV11 had arthritis and histologically documented cirrhosis TFR2 TFR2 1 6 Johan den Dunnen
00024959 - PubMed: Camaschella 2000, Journal: Camaschella 2000, PubMed: Roetto 2001 2-generation family, 3 affecteds (2F), unaffected heterozygous carrier parents; PatII3 homozygous for HFE:H63D M ? Italy Italina, Sicily - - - - HFE3 see paper; increased transferrin saturation and serum ferritin and most had disease-related clinical complications; affected siblings had skin pigmentation and abnormal liver function tests; PatII3 had liver cirrhosis, diabetes and arthritis HFE, TFR2 HFE, TFR2 2 3 Johan den Dunnen
00024960 - PubMed: Roetto 2001, Journal: Roetto 2001 6-generation family, 6 affecteds, (2F, 4M), 6 unaffected heterozygous carriers - yes Italy Italian, south, Campania - - - - HFE3 see paper TFR2 TFR2 1 6 Johan den Dunnen
00024961 - PubMed: Roetto 2001, Journal: Roetto 2001 3-generation family, 1 affected, unaffected heterozygous carriers - ? Italy Italian, central, Lazio - - - - HFE3 see paper TFR2 TFR2 1 1 Johan den Dunnen
00024969 - PubMed: Girelli 2002 2-generation family, 3 affecteds (F, 2M), unaffected heterozygous carriers M ? Italy Italian, north - - - - HFE3 see paper; ..., hemochromatosis, juvenile; elevated hepatic iron (HP:0012465) HII 11.2 µmol Fe/g dry wt liver/year; phlebotomy 8.75g Fe HFE, TFR2 TFR2 1 3 Dan Yin
00024970 - PubMed: Hsiao 2007 - F ? Taiwan Taiwanese - - - - HFE3 chronic hepatitis C infection (AST 41, ALT 58 IU/L; normal ranges < 40 IU/L); never treated with interferon; liver biopsy showed iron mainly in hepatocytes; LFTs normalized after 3y venesection; repeat liver biopsy after 3y venesection contained little iron; elevated hepatic iron (HP:0012465) venesection ~4.5g Fe over 3y; HII 8.48 µmol Fe/g dry wt liver/y HFE, TFR2 TFR2 1 1 Ann Walker
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