నైరూప్య

TMPRSS6- mutation in iron deficiency anemia -A review.

Ngoubinah Pretty TM, Palati Sinduja, R. Priyadharshini

Iron is one of the elements that participate in numerous reactions on the body and the structure of hemoglobin to carry oxygen to the tissues. Iron deficiency is usually related to chronic loss of blood or inadequate dietary intake it shows that iron deficiency anemia restrains to oral iron therapy can be caused by a germline mutation in TMPRSS6 they encode type two trans membrane serine protease produced by the liver which helps in regulating the expression of systemic iron. In vitro, TMPRSS6 cleaves hemojuvelin from the plasma membrane.TMPRSS6 is thought to down-regulate the signaling pathway essential for iron-dependent regulation of hepcidin transcription. TMPRSS6 expression is regulated in vitro and in vivo by one of the most important activators of hepcidin expression, they also assessed whether the potent physiologic inducer of hepcidin, iron; can modulate TMPRSS6 mRNA levels in vivo. TMPRSS6 polymorphisms are more frequent than mutations and have been associated with variation in iron and hematologic parameters, Overexpression of normal TMPRSS6 protein suppresses activation of the HAMP promoter, and the TMPRSS6 cytoplasmic domain mediates HAMP suppression via proximal promoter element. TMPRSS6 is crucial in the control of iron homeostasis and normal erythropoiesis because TMPRSS6 is associated with hematological parameters. TMPRSS6 mutation leads to the overproduction of hepcidin and helps in defective iron absorption and utilization. The mutations on the TMPRSS6 gene should be kept in mind in patients with low transferrin saturation, normal levels of ferritin, high levels of the hepcidin molecules, and a family history of iron deficiency anemia