Amin Shaema, Jalal Sana, Ali Kosar, Rasool Luqman, Osman Tara, Ali Omed, M-Saeed Abdalhamid
Hiwa Hematology/Oncology Sulaymaniyah Cancer Center, Sulaymaniyah, Iraq.
Department of Pathology, College of Medicine, University of Sulaymaniyah, Sulaymaniyah, Iraq.
Int J Gen Med. 2020 Dec 9;13:1453-1467. doi: 10.2147/IJGM.S277947. eCollection 2020.
β-thalassemia is a significant problem in the northeastern part of Iraq, and has imposed a huge burden on the health authorities.
To identify the molecular characterization and morbidity prevalence in transfusion-dependent thalassemia (TDT) and non-transfusion dependent thalassemia (NTDT) phenotypes in northeastern Iraq.
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.
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.
The overall complications rate was 78.9%, with a growing probability of complications with advanced age, with evidently higher rates in patients with ββ and ββ genotypes that explain the role of underlying genetic defects in the pathophysiology of disease complications.
β地中海贫血在伊拉克东北部是一个严重问题，给卫生当局带来了巨大负担。
确定伊拉克东北部输血依赖型地中海贫血（TDT）和非输血依赖型地中海贫血（NTDT）表型的分子特征和发病率。
这是一项对来自162个家庭的242例β地中海贫血患者进行的横断面研究。采用反向杂交技术和直接基因测序对β地中海贫血突变进行特征分析，并通过精心设计的问卷对患者的病历进行回顾。
共鉴定出22种β珠蛋白突变，分布于53种不同基因型中：IVS-II-1（G>A）（35.7%），其次是IVS-I-6（T>C）（18.0%），密码子8/9（+G）（8.5%）最为常见。在与疾病相关的并发症中，骨病占（66.9%），其次是内分泌病（32.2%）、肝胆并发症（28.9%）和肺动脉高压（9.9%），而血栓形成、髓外造血和腿部溃疡则较少见。
总体并发症发生率为78.9%，并发症发生概率随年龄增长而增加，ββ和ββ基因型患者的并发症发生率明显更高，这解释了潜在遗传缺陷在疾病并发症病理生理学中的作用。
