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Methylmalonic Acidemia and Megaloblastic Anemia due to Congenital Intrinsic Factor Deficiency

Causes of vitamin B12 deficiency in children include decreased intake, abnormal absorption, and inborn errors of B12 transport and metabolism. Rare causes of abnormal cobalamin absorption include Imerslund-Grasbeck syndrome (IGS) and intrinsic factor deficiency (IFD). IGS and IFD are caused by defects in the genes CUBN, AMN, and GIF. We describe a 2 year old male who presented with severe megaloblastic anemia and methylmalonic acidemia. He was found to have a GIF heterozygous mutation c.79+1G>A associated with congenital gastric intrinsic factor deficiency and a novel variant c.960C>A in trans position.
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A One-Year Hospital Based Prospective Study of Sickle Cell Disease from One Capital Area of Kuwait by HPLC

Haemoglobinopathies are inherited disorders of haemoglobin synthesis that are responsible for significant morbidity and mortality all over the world.
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