Molecular Characterization and Disease-Related Morbidities of ß-Thalassemia Patients from the Northeastern Part of Iraq.
Int J Gen Med
; 13: 1453-1467, 2020.
Article
em En
| MEDLINE
| ID: mdl-33335418
ABSTRACT
BACKGROUND:
ß-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 ANDMETHODS:
This is a cross-sectional study conducted on 242 ß-thalassemia patients from 162 families. Reverse hybridization technique and direct gene sequencing were used to characterize ß-thalassemia mutations, and medical records of the patients were reviewed with a well-designed questionnaire.RESULTS:
A total of 22 ß-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 ß0ß0 and ß0ß+ genotypes that explain the role of underlying genetic defects in the pathophysiology of disease complications.
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MEDLINE
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En
Ano de publicação:
2020
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Article