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撒哈拉以南非洲地区的地中海贫血:流行病学、诊断与管理——一篇叙述性综述

Thalassemia in Sub-Saharan Africa: epidemiology, diagnosis, and management - a narrative review.

作者信息

Obeagu Emmanuel Ifeanyi

机构信息

Department of Biomedical and Laboratory Science, Africa University, Mutare, Zimbabwe.

出版信息

Ann Med Surg (Lond). 2025 Apr 10;87(6):3523-3536. doi: 10.1097/MS9.0000000000003270. eCollection 2025 Jun.

Abstract

Thalassemia is a hereditary blood disorder characterized by the reduced production of hemoglobin, leading to anemia and related complications. In Sub-Saharan Africa, the prevalence of thalassemia, particularly beta-thalassemia, is significant due to genetic predisposition and historical factors such as malaria endemicity. Despite the increasing awareness of the disease, thalassemia continues to be a major public health challenge in the region. Early diagnosis, effective management, and prevention strategies are limited by factors such as poor health care infrastructure, a lack of skilled professionals, and insufficient access to necessary medical treatments. This review article explores the epidemiology, diagnostic approaches, and current management practices for thalassemia in Sub-Saharan Africa. The high prevalence of thalassemia carriers in the region, particularly in malaria-endemic areas, highlights the need for genetic counseling and prenatal screening programs. Furthermore, diagnostic techniques such as hemoglobin electrophoresis and DNA testing are often underutilized due to logistical and financial constraints, leading to late diagnoses and suboptimal care. Treatment options, including blood transfusions and iron chelation therapy, remain inadequate in many parts of Sub-Saharan Africa due to the limited availability of health care resources.

摘要

地中海贫血是一种遗传性血液疾病,其特征是血红蛋白生成减少,导致贫血及相关并发症。在撒哈拉以南非洲,由于遗传易感性以及疟疾流行等历史因素,地中海贫血尤其是β地中海贫血的患病率很高。尽管对该疾病的认识不断提高,但地中海贫血在该地区仍然是一项重大的公共卫生挑战。早期诊断、有效管理和预防策略受到诸如医疗保健基础设施薄弱、缺乏专业技术人员以及获得必要医疗治疗的机会不足等因素的限制。这篇综述文章探讨了撒哈拉以南非洲地区地中海贫血的流行病学、诊断方法和当前的管理实践。该地区地中海贫血携带者的高患病率,尤其是在疟疾流行地区,凸显了遗传咨询和产前筛查项目的必要性。此外,由于后勤和资金限制,血红蛋白电泳和DNA检测等诊断技术往往未得到充分利用,导致诊断延迟和治疗效果欠佳。由于医疗保健资源有限,撒哈拉以南非洲许多地区的治疗选择,包括输血和铁螯合疗法,仍然不足。

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