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.
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.