Perrotta Silverio, Gallagher Patrick G, Mohandas Narla
Department of Paediatrics, Second University of Naples, Naples, Italy.
Lancet. 2008 Oct 18;372(9647):1411-26. doi: 10.1016/S0140-6736(08)61588-3.
Hereditary spherocytosis is a common inherited disorder that is characterised by anaemia, jaundice, and splenomegaly. It is reported worldwide and is the most common inherited anaemia in individuals of northern European ancestry. Clinical severity is variable with most patients having a well-compensated haemolytic anaemia. Some individuals are asymptomatic, whereas others have severe haemolytic anaemia requiring erythrocyte transfusion. The primary lesion in hereditary spherocytosis is loss of membrane surface area, leading to reduced deformability due to defects in the membrane proteins ankyrin, band 3, beta spectrin, alpha spectrin, or protein 4.2. Many isolated mutations have been identified in the genes encoding these membrane proteins; common hereditary spherocytosis-associated mutations have not been identified. Abnormal spherocytes are trapped and destroyed in the spleen and this is the main cause of haemolysis in this disorder. Common complications are cholelithiasis, haemolytic episodes, and aplastic crises. Splenectomy is curative but should be undertaken only after careful assessment of the risks and benefits.
遗传性球形红细胞增多症是一种常见的遗传性疾病，其特征为贫血、黄疸和脾肿大。该病在全球范围内均有报道，是北欧血统个体中最常见的遗传性贫血。临床严重程度因人而异，大多数患者患有代偿良好的溶血性贫血。一些个体无症状，而另一些则患有严重的溶血性贫血，需要进行红细胞输血。遗传性球形红细胞增多症的主要病变是膜表面积减少，由于膜蛋白锚蛋白、带3蛋白、β-血影蛋白、α-血影蛋白或蛋白4.2缺陷导致变形性降低。在编码这些膜蛋白的基因中已鉴定出许多孤立的突变；尚未鉴定出常见的与遗传性球形红细胞增多症相关的突变。异常球形红细胞被困在脾脏中并被破坏，这是该疾病溶血的主要原因。常见并发症有胆结石、溶血发作和再生障碍性危象。脾切除术可治愈该病，但仅应在仔细评估风险和益处后进行。
