DETECTION OF TRANSFERRIN RECEPTOR 1 SINGLE NUCLEOTIDE VARIANT RS- 3817672 IN PEDIATRIC IRON DEFICIENCY ANAEMIA

Ismail, Hamis Moussa; EL Gendy, Wessam; Hassab, Hoda; Tahoun, Mona

doi:10.21608/alexpo.2021.105988.1311

DETECTION OF TRANSFERRIN RECEPTOR 1 SINGLE NUCLEOTIDE VARIANT RS- 3817672 IN PEDIATRIC IRON DEFICIENCY ANAEMIA

Document Type : Preliminary preprint short reports of original research

Authors

¹ Ministry of Health, Egypt

² Department of Clinical and Chemical Pathology, Faculty of Medicine, Alexandria University Egypt

³ Department of Pediatrics, Faculty of Medicine, Alexandria University Egypt

10.21608/alexpo.2021.105988.1311

Abstract

Iron deficiency anemia (IDA) is the most common cause of anemia worldwide. It is one of the main causes of increased maternal and childhood morbidity and mortality.(1) According to WHO, around 50 % of anemia cases diagnosed with IDA.(2) Several iron regulatory genes encode proteins that control iron hemostasis; HFE gene, TFR2 gene, TFR1gene and HJV gene. Variations in these genes are reported to be associated with iron homeostasis imbalance causing either IDA or overload. Genetic variations that interfere with the TFR1-HFE interaction will probably lead to high hepcidin and IDA.(3) TFR1 gene, encodes for transferrin receptor 1 protein, genetic polymorphism rs3817672 was selected to study its association with IDA.
AIM OF THE WORK:
The aim of the study was to detect the presence of TFR1 gene variant rs3817672 (p.S142G) in children diagnosed with iron deficiency anemia and assess the relation of this variant with their iron profiles.
SUBJECT AND METHODS:
Subject:
The current case control study is conducted on 50 children diagnosed with IDA and 50 age and sex matched healthy controls. Children diagnosed with thalassemia, anemia of chronic illness, acute infection and gastrointestinal problems causing chronic blood loss were excluded.

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