All individuals with variants in gene HAMP

16 entries on 1 page. Showing entries 1 - 16.
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00024942 - PubMed: Island 2009 - M - France - - - - - HFE1 elevated hepatic iron (0012465) HII 12.2 umol Fe/g dry weight/year; venesection 85g Fe 1 1 Chana Unger
00024943 - PubMed: Matthes 2004 - M - Portugal - - - - - HFE1 hemochromatosis, juvenile; insulin-dependent diabetes mellitus; heart failure; hypogonadotropic hypogonadism; skin hyperpigmentation; elevated hepatic iron (0012465) venesection 12g Fe over 11months 1 1 Chana Unger
00024944 - Delbini 2008, HumGenet online - - - - - - - - - HFE1 hemochromatosis, juvenile 1 1 Ann Walker
00024945 - PubMed: Andreani 2009 - - - - - - - - - ? mean LIC and SF levels significantly higher 1 1 Ann Walker
00024946 - PubMed: Biasiotto 2004 found in 3 individuals (incl. father/son) - - - - - - - - ? see paper; variable 1 3 Ann Walker
00024947 - PubMed: Lok 2009 - M - Pakistan - - - - - HFE1 hemochromatosis, juvenile; 21y-hypogonadotropic hypogonadism, gynecomastia; transferrin saturation >97%; increased liver enzyme activities normalised after venesection; elevated hepatic iron (0012465) serum ferritin 5686 ug/L, venesection of 12.5g Fe 1 1 Chana Unger
00024948 - PubMed: Merryweather-Clarke 2003 digenic inheritance; 2-generation family, patient and unaffected carrier mother M - - - - - - - HFE1 hemochromatosis, juvenile; 27y-congestive heart failure, hypogodanotropic hypogonadism, diabetes mellitus, fatigue and skin pigmentation, liver biopsy showed fibrosis; elevated hepatic iron (0012465) hepatic iron index 17.8 umol Fe/g dry wt/y, venesection removed 27g Fe over 4y 1 1 Chana Unger
00024949 - PubMed: Merryweather-Clarke 2003 unaffected carrier mother HFE p.(H63D) M - - - - - - - HFE1 hemochromatosis, juvenile; elevated hepatic iron (0012465) normal serum iron biochemistry. 1 1 Chana Unger
00024950 - PubMed: Roetto 2003 - - - - - - - - - HFE1 hemochromatosis, juvenile 1 2 Chana Unger
00024951 - PubMed: Jacolot 2004 - - - - - - - - - HFE1 elevated hepatic iron (0012465) venesection 14.6g Fe 1 1 Chana Unger
00024952 - PubMed: Roetto 2004 - - - Italy - - - - - HFE1 hemochromatosis, juvenile 1 1 Chana Unger
00024953 - PubMed: Merryweather-Clarke 2003 2-generation family, heterozygous carrier father HFE:C282Y heterozygote, sister HFE:C282Y homozygote - - - - - - - - HFE1 hemochromatosis; elevated hepatic iron (0012465) venesection 6g Fe 1 1 Chana Unger
00024954 - PubMed: Hattori 2012 - - - Japan - - - - - HFE1 hemochromatosis, juvenile 1 1 Chana Unger
00024955 - PubMed: Delatycki 2004 - - - Israel Middle Eastern - - - - HFE1 hemochromatosis; elevated hepatic iron (0012465) venesection 20g Fe; HII 11.3 umol/g dry weight/year 1 1 Chana Unger
00024956 - PubMed: Roetto 2003 two affected sisters F - - - - - - - HFE1 hemochromatosis, juvenile; severe iron overload with liver fibrosis or cirrhosis and hypogonadism 1 2 Chana Unger
00104937 17726683-Pat PubMed: Barton 2008, Journal: Barton 2008 - F - United States native American;white - - - - HFE see paper; ... 1 1 Johan den Dunnen
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