heterozygous hfe gene mutationprimary iron overloadrare cause of acute abdominal painHereditary hemochromatosis (HH) is the most common autosomal recessive genetic disorder globally for Caucasians. HH is known as an iron metabolism disorder where there is an increase in iron ...
Figure 2. Frequency of symptoms in individuals of homozygous hereditary haemochromatosis genotype (C282Y/C282Y), of compound heterozygous genotype (C282Y/H63D), and without any HFE mutations (wild-type) Error bars=SE. Table 3. Effect of sex, ferritin concentration, transferrin saturation, and ...
Most HH patients are homozygous for A Cys-282→Tyr (C282Y) mutation in HFE gene, which has Been shown to disrupt interaction with β_2-microglobulin; a Second mutation, His-63 →Asp (H63D), is enriched in HH Patient who are heterozygous for C2822Y mutation.Abdul Waheed...
Expression of HLA-linked hemochromatosis in subjects homozygous or heterozygous for the C282Y mutation BACKGROUND & AIMS: In the absence of a genetic test, diagnostic criteria for hereditary hemochromatosis have been imprecise. The identification of the HFE ... DHG Crawford,EC Jazwinska,LM Cullen,...
The carriage of H63D risk allele (OR = 1.54; P = 0.02), heterozygous C282Y/wt and homozygous H63D/H63D genotypes were associated with liver cirrhosis in males (OR = 2.48, P = 0.008, and OR = 4.13, P = 0.005, respectively). Conclusions Heterozygous C282Y mutation of the HFE gene ...
Direct sequence analysis was then performed when products suggested the presence of a mutation. Results:All the subjects studied were free from C282Y. None of the patients with hemochromatosis had H63D. One patient with chronic hepatitis C was homozygous, and 4 patients were heterozygous for H63D...
(Table1). There were 58 diagnoses of carcinoma; 37 were adenocarcinomas of the female breast, adenocarcinomas of the colon or rectum, or non-small cell carcinomas of the lung (Table2). Among controls, there were 158 men and 160 women. Their average age at the time ofHFEmutation analysis...
gous for the p.C282Y, but compound heterozygous for the two variants also have a small risk for HH (Alexander and Kowdley, 2009). Despite the emerging next generation sequencing platforms (Harismendy et al., 2009; Voelkerding and Dames, 2009) future diagnos- ...
The presence of the HFE gene mutation was determined by polymerase chain reaction based analysis. Follow up fasting blood samples were obtained from patients homozygous for the mutation. RESULTS Fourteen of the 1900 Caucasian subjects (0.74%) were homozygous and 224 (11.8%) were heterozygous for ...
Expression of HLA-linked hemochromatosis in subjects homozygous or hetero- zygous for the C282Y mutation. Gastroenterology 1998; 114(5): 1003-8. [CrossRef]Crawford DH, Jazwinska EC, Cullen LM, Powell LW. Expression of HLA-linked hemochromatosis in subjects homozygous or heterozygous for the ...