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 transfu-sion-dependent thalassemia (TDT) and non-transfusion dependent thalassemia (NTDT) phe-notypes 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 β0β0 and β0β+ genotypes that explain the role of underlying genetic defects in the pathophysiology of disease complications.
CITATION STYLE
Amin, S., Jalal, S., Ali, K., Rasool, L., Osman, T., Ali, O., & M-Saeed, A. (2020). Molecular characterization and disease-related morbidities of β-thalassemia patients from the northeastern part of Iraq. International Journal of General Medicine, 13, 1453–1467. https://doi.org/10.2147/IJGM.S277947
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