الفهرس 
Relation of tmprss6 rs855791 and FPN1 gene promoter-1355 G/C genetic variants to susceptibility of iron deficiency anemia in down syndrome
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Abstract
Background: Down syndrome (DS) is the most common neurodevelopmental disorder of known genetic cause. Similar to the general
population, individuals with DS may be at risk for iron deficiency anemia
(IDA). Matriptase -2 (MT-2), encoded by TMPRSS6 gene is an essential
component that detects iron deficiency (ID), represses hepcidin
transcription and permits enhanced iron absorption. Ferroportin (FPN1) is
an iron exporter protein which is responsible for absorbing and releasing
iron to reproduce new erythocytes.
Objective: The aim of this study was to recognize the relation of
TMPRSS6 rs855791 and FPN1 gene promoter-1355 G/C single
nucleotide polymorphisms to susceptibility of IDA in Egyptian DS
patients.
Subjects and methods: The study was conducted on one hundred DS
patients diagnosed by clinical examination and karyotyping analysis. One
hundred age and sex matched healthy children were also enrolled as a
control group. TMPRSS6 rs855791 and FPN1 gene promoter-1355 G/C
single nucleotide polymorphisms had been detected by restricted
fragment length polymerase chain reaction (PCR-RFLP)