The role of Hepcidin Gene Polymorphism (rs10421768 A˃G and rs1173345431C>T) on β-Thalassemia Major in Iraqi Patients

Abstract

Thalassemia is a genetic blood illness that can cause haemoglobin to develop abnormally and is inherited from a person's parents. Thalassemia has two primary subtypes: alpha and beta. The number of the four alpha globin genes or the two beta globin genes that are absent determines how severe alpha and -thalassemia is. The Mediterranean region, Africa, the Middle East, the Indian subcontinent, and South-East Asia all have a high prevalence of thalassemia. This study's goal is to determine whether there is a relationship between serum ferritin levels in Iraqi patients with major -thalassemia and the single nucleotide polymorphisms (SNPs) (rs10421768 A>G and (rs1173345431C>T) in the Hepcidin gene. The study is divided into two groups: fifty individuals with -thalassemia (35 females and 15 males) and fifty individuals who appear to be in good health (13 males and 37 females). The participants ranged in age from (14 – 40). All information about the study groups, including age, gender, family history, length of blood transfusions, and severity of the disease, was gathered in questionnaire form during the recruitment period, which lasted from June to October 2022, at the Ibn Albaladi Centre for Thalassemia Disease in Baghdad. The level of ferritin in the blood serum and the whole picture of the blood were determined, and the single nucleotide polymorphisms (SNPs) were investigated using the (real-time PCR-HRM) technology. The results of the survey for the group of patients and persons who appeared to be in good health were as follows: a significant decrease (p0.01) in the level of haemoglobin (Hb) for beta-thalassemia patients (8.57+0.22) compared with the control group (11.15+0.24): while the result shows no significant increase in white blood cells of beta thalassemia patients (11.31+2.15)x109/L when compared with the control group (8.81+0.35)x109/L. The red cells distribution width (RDW) results in a significant increase in beta-th The patients with severe symptoms (31(62.00%) and those with moderate symptoms (19(38.00%) had the highest severity percentages, respectively. Blood transfusion duration shows a significant difference increase in duration over two weeks (21(42.00%): three weeks (18(36.00%): and four weeks (11(22.00%) with P-value (0.0073). Patients with -thalassemia had a significantly higher level of serum ferritin (2929.16+1877.54 ng/ml) compared to the control group (21.96+14.21) ng/ml, with a p-value of (0.0001): in the laboratory. The genotyping and allele results for the SNP (rs10421768 A>G) did not reveal any appreciable differences between the control group and the sick population. Additionally, there was no discernible difference between the two groups of patients and controls for (rs1173345431C>T).  In conclusion, environmental and genetic factors such family history, the severity of the disease, and the presence of the A allele and AA genotype in the Hep. gene (rs10421768 A>G). They could be viewed as crucial contributors to the pathophysiology of Iraqi patients with -thalassemia major.