Mukherjee M B, Surve R, Tamankar A, Gangakhedkar R R, Ghosh K, Lu C Y, Krishnamoorthy R, Colah R, Mohanty D
Institute of Immunohaematology (ICMR), Mumbai.
Indian J Med Res. 1998 Apr;107:178-81.
We evaluated the clinical and haematological features of 29 sickle cell anaemia patients with associated alpha-thalassaemia and 22 sickle cell homozygotes with a normal alpha-globin genotype from western India. The presence of alpha-thalassaemia resulted in significantly higher haemoglobin (Hb), haematocrit (HCT), red blood cells counts (RBC) and haemoglobin A2 (HbA2) levels but lower mean cell haemoglobin (MCH) and mean cell volume (MCV). The clinical presentation in these patients was also milder with fewer episodes of painful crisis, chest syndromes, infections, requirement of hospitalization and blood transfusions. However, splenomegaly was more common as compared to the patients with a normal alpha-globin genotype. It is evident from the present study that alpha-thalassaemia could be an important genetic factor modulating the clinical expression and haematological severity of sickle cell anaemia in this region.
我们评估了来自印度西部的29例伴有α地中海贫血的镰状细胞贫血患者以及22例α珠蛋白基因型正常的镰状细胞纯合子的临床和血液学特征。α地中海贫血的存在导致血红蛋白（Hb）、血细胞比容（HCT）、红细胞计数（RBC）和血红蛋白A2（HbA2）水平显著升高，但平均红细胞血红蛋白（MCH）和平均红细胞体积（MCV）降低。这些患者的临床表现也较轻，疼痛危象、胸部综合征、感染、住院需求和输血次数较少。然而，与α珠蛋白基因型正常的患者相比，脾肿大更为常见。从本研究可以明显看出，α地中海贫血可能是调节该地区镰状细胞贫血临床表型和血液学严重程度的重要遗传因素。
