Which of the following statements about Hemochromatosis is true:
Answer is B (Inherited as an Autosomal Recessive) : Hereditary Hemochromatosis is essentially inherited us an autosomal recessive condition. Hereditary Hemochromatosis is essentially an Autosomal Recessive condition The most common form of hereditary hemochromatosis is related to mutations in HFE gene, which is a gene located on the sho arm of chromosome 6 and is FILA linked HFE related hereditary hemochromatosis (most common type) is inherited as an autosomal recessive condition Hereditary Hemochromatosis shows incomplete penetrance Incomplete penetrance refers to the lack of disease symptoms in an individual despite the presence of pathological gene mutation Expression of Hemochromatosis is variable and many HFE positive people neither have nor develop disease, thus displaying the phenomenon of incomplete penetrance This suggests that other genetic and / or environmental factors modify the pathogenesis of disease Hereditary Hemochromatosis is more common in Men The clinical expression of disease is 5 -10 times more common in men than women - Harrison Phlebotomy is an effective management option but it does not lead to cure The therapy of hemochromatosis involves removal of excess body iron which is best accomplished by phlebotomy Phlebotomy is not curative and will be required at appropriate intervals to maintain.ferritin levels (usually one phlebotomy every 3 months)' - Harrison
Shows complete penetrance
Inherited as an autosomal recessive disorder
Phlebotomy is curative
More common in Females