Ataga Kenneth I, Cappellini Maria D, Rachmilewitz Eliezer A
Division of Hematology/Oncology, University of North Carolina, Chapel Hill, NC 27599-7305, USA.
Br J Haematol. 2007 Oct;139(1):3-13. doi: 10.1111/j.1365-2141.2007.06740.x.
Thalassaemia and sickle cell disease (SCD) represent the most common forms of hereditary haemolytic anaemia and result from a partial or complete lack of synthesis of one of the major alpha- or beta-globin chains of haemoglobin A or from a single amino acid mutation (beta(6Glu-->Val)) of the beta-globin chain respectively. Although they have different pathophysiologies, patients with these conditions manifest both biochemical and clinical evidence of hypercoagulability. While the frequency of various thrombotic complications may vary in beta-thalassaemia and homozygous SCD [sickle cell anaemia (SCA)], patients with both diseases manifest decreased levels of natural anticoagulant proteins, as well as increased markers of thrombin generation and platelet activation. The abnormal phospholipid membrane assymetry present in the red blood cells of beta-thalassaemia and SCA patients, with resultant phosphatidylserine exposure appears to play a significant role in the aetiology of the observed hypercoagulable state. This review presents the available data on the aetiology and clinical manifestations of the coagulation and platelet activation that exist in both beta-thalassaemia and SCA, as well as the potential therapeutic implications resulting from this hypercoagulability.
地中海贫血和镰状细胞病（SCD）是最常见的遗传性溶血性贫血形式，分别是由于血红蛋白A的主要α或β珠蛋白链之一部分或完全缺乏合成，或β珠蛋白链发生单个氨基酸突变（β(6Glu→Val)）所致。尽管它们的病理生理学不同，但患有这些疾病的患者均表现出高凝状态的生化和临床证据。虽然β地中海贫血和纯合子SCD[镰状细胞贫血（SCA）]中各种血栓形成并发症的发生率可能有所不同，但这两种疾病的患者均表现出天然抗凝蛋白水平降低，以及凝血酶生成和血小板活化标志物增加。β地中海贫血和SCA患者红细胞中存在的异常磷脂膜不对称性以及由此导致的磷脂酰丝氨酸暴露，似乎在观察到的高凝状态的病因中起重要作用。本综述介绍了关于β地中海贫血和SCA中存在的凝血和血小板活化的病因及临床表现的现有数据，以及这种高凝状态可能产生的治疗意义。
