Relationship between Trans-Membrane Protease Serine 6 Gene Polymorphism (C1795T) and Danger of Iron Deficiency Anemia in Khartoum State-2019

Authors : Najla, H. Homri, Selma, E. Abdalla, Tarig A. M. Hamid

Volume/Issue : Volume 4 - 2019, Issue 8 - August

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Iron deficiency anemia is among the most common nutritional anemias. But its genetic bases yet to be fully understood. It might be due to genetic alterations which affect the homeostasis of iron.  Introduction  Type 2 serine protease family consist of many members, one of the most effective and important members related to IDA is TMPRSS6.  TMPRSS 6 gene synthesize Matriptase 2 which is negatively regulates hepcidin expression, this occurs by cleaving the membrane bound hemojuvelin.  The missence mutation of TMPRSS6 affecting all the domains that affect protein- protein interaction over the entire gene sequence. If the activity of TMPRSS6 reduced it will lead to two major events, firstly it will up regulate the hepcidin transcription and secondly it will down regulate the expression of ferroportin, resulting in iron retention. Actually Iron deficiency anemia has been broadly discovered and understood as a nutritional disorder but there is a limited understanding of iron deficiency anemia, which is due to genetic alterations in iron homeostasis, which is a recently recognized recessive disorder that causes microcytic hypochromic anemia. It’s due to mutations in the trans-membrane protease serine 6 genes (C1795T), which encodes matriptase-2, and mainly expressed by hepatocytes. In this analytical study case- control, we registered hundred patients with iron deficiency anemia and 100 healthy volunteers as a control group and analyzed their complete blood counts and TMPRSS6 genotypes. TMPRSS6 C/T polymorphism was analyzed using polymerase chain reaction. The TT genotype (mutant gene) of TMPRSS6 C1795T polymorphism was higher frequent in IDA patients (71.4%). The results show low hemoglobin concentration and MCV while RDW was increase significant difference (P≤0.00) in IDA patients compere with normal individual when interacted with the TMPRSS6 genotypes. In peroration there were statistically significant association between TMPRSS6 C/T polymorphism and risk of IDA among Sudanese patients in Khartoum state.

Keywords : Iron Deficiency Anemia, TMPRSS6-Sudan.


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