<p>Molecular Characterization and Disease-Related Morbidities of β-Thalassemia Patients from the Northeastern Part of Iraq</p>

Abstract

Background β-thalassemia is a significant problem in the northeastern part of Iraq, and has imposed a huge burden on the health authorities. Objective To identify the molecular characterization and morbidity prevalence in transfusion-dependent thalassemia (TDT) and non-transfusion dependent thalassemia (NTDT) phenotypes in northeastern Iraq. Patients and Methods This is a cross-sectional study conducted on 242 β-thalassemia patients from 162 families. Reverse hybridization technique and direct gene sequencing were used to characterize β-thalassemia mutations, and medical records of the patients were reviewed with a well-designed questionnaire. Results A total of 22 β-globin mutations arranged in 53 different genotypes were identified: IVS-II-1 (G> A) (35.7%), followed by IVS-I-6 (T> C) (18.0%), and codon 8/9 (+G) (8.5%) were the most frequent. Among disease-related morbidities, bone disease amounted to (66.9%), followed by endocrinopathies (32.2%), hepatobiliary complications (28.9%), and pulmonary hypertension (9.9%), whereas thrombosis, extramedullary hemopoiesis, and leg ulcers were less frequent. Conclusion The overall complications rate was 78.9%, with a growing probability of complications with advanced age, with evidently higher rates in patients with β 0 β 0 and β 0 β + genotypes that explain the role of underlying genetic defects in the pathophysiology of disease complications.

Frequency of consanguineous marriage among the thalassaemia major patients in Bangabandhu Sheikh Mujib Medical University

“…A study conducted in 2020 expressed 54.5% was on regular blood transfusion. 15 We found another study held in 2017which showed that 62% of the study population was TDT (transfusion dependent thalassaemia) and rest of the study population was NTDT(non-transfusion dependent thalassaemia). 17 A study held in 2020 showed that 56.73% of the study population requires regular blood transfusion which is consistent with our study too.…”

“…4 Another study conducted 2020 expressed 53.3% was male. 15 Again, a study conducted in 2013 showed that 53% of the study population was male and 47% was female. 16 So, all of these studies results are consistent with our study.…”

Frequency of Hepatitis C Virus Infection Among Beta-Thalassemia Patients in Baghdad City, Iraq

“…Beta thalassemia is defined as a group of recessive genetic disorders of hemoglobin synthesis that caused health disorders of prominent importance in the tropical part, especially in low-resource countries, as it is in Iraq [1 ]The annual total rate of symptomatic persons is estimated to be about 1 in 100,000 cases worldwide. Three types of thalassemia have been described: thalassemia major, thalassemia intermediate and thalassemia minor.…”