作者
Ali T Taher, David J Weatherall, Maria Domenica Cappellini
发表日期
2018/1/13
来源
The Lancet
卷号
391
期号
10116
页码范围
155-167
出版商
Elsevier
简介
Inherited haemoglobin disorders, including thalassaemia and sickle-cell disease, are the most common monogenic diseases worldwide. Several clinical forms of α-thalassaemia and β-thalassaemia, including the co-inheritance of β-thalassaemia with haemoglobin E resulting in haemoglobin E/β-thalassaemia, have been described. The disease hallmarks include imbalance in the α/β-globin chain ratio, ineffective erythropoiesis, chronic haemolytic anaemia, compensatory haemopoietic expansion, hypercoagulability, and increased intestinal iron absorption. The complications of iron overload, arising from transfusions that represent the basis of disease management in most patients with severe thalassaemia, might further complicate the clinical phenotype. These pathophysiological mechanisms lead to an array of clinical manifestations involving numerous organ systems. Conventional management primarily relies …
引用总数
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学术搜索中的文章
AT Taher, DJ Weatherall, MD Cappellini - The Lancet, 2018