Year: 2014 | Month: July | Volume 7 | Special Issue

Study of HFE Gene Mutation at C282Y and H63D Locus with Special Reference to Thalassemia Patients


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Abstract:

Hemochromatosis disorder of iron metabolism leads to excess iron levels in body which is extremely toxic to all cells of the body and can cause serious and irreversible
damages. Clinical complications of hemochromatosis include cirrhosis of the liver, congestive cardiac failure and cardiac arrhythmias, endocrine pancreatic disease. Hemochromatosis is classified as Primary and secondary hemochromatosis. One of the type of primary hemochromatosis is type I also refereed as hereditary hemochromatosis (HH) and is a autosomal recessive disorder of iron metabolism. Three recurrent mutations in hemochromatosis gene (HFE) : C282Y, H63D and S65C are known for hereditary hemochromatosis. C282Y is considered the most relevant mutation responsible for hemochromatosis. In secondary or acquired hemochromatosis, reasons for excess iron accumulation are repeated blood transfusions or enhanced iron absorption produced by thalassemia or both, if thalassemic patients are having mutations in HFE gene repeated blood transfusions may aggravate the condition hence, it is important to screen the thalassemic patients for HFE gene mutations.



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International Journal of Agriculture Environment & Biotechnology(IJAEB)| In Association with AAEB

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