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1974年Van Den Berghe等报告一种大红细胞性贫血伴有5号染色体长臂缺失,并定名为5q~-综合征。本文作者报告6例类似患者,支持5q~-综合征是一种具有特定血液学表现的独立疾病。6例中男性5例,女性1例,年龄25～79岁。血液学表现:6例均有轻度～中度贫血,红细胞明显大小不匀和形态异常,有大量卵圆形大红细胞;平均红细胞体积增加(104～119毫微微升);网织红细胞计数0.3%～1.8%;白细胞计数正常,仅1例为3×10~9/升,中性成熟粒细胞形态无异常;血小板计数增高(385～645×10~9/升);周围血片中有大量巨大血小板。4例做了血红蛋白电泳检查,HbF不增高,无异常血红蛋白;6例均无明显溶血表现;2例检查了红细胞
In 1974, Van Den Berghe et al. Reported a large erythroid anemia associated with a long arm deletion on chromosome 5 and was named 5q ~ - syndrome. The authors report 6 similar patients and support 5q ~ - syndrome as an independent disease with specific hematologic manifestations. 6 males in 5 cases, 1 female, aged 25 to 79 years. Hematological performance: 6 cases were mild to moderate anemia, red blood cells were significantly uneven size and morphology, a large number of oval erythrocytes; average increase in the volume of red blood cells (104 ~ 119 femtoseconds); reticulocyte count 0.3 % ~ 1.8%; white blood cell count was normal, only 1 case was 3 × 10 ~ 9 / L, no abnormal neutrophil granulocyte morphology; platelet count increased (385 ~ 645 × 10 ~ 9 / Huge huge platelets. 4 cases of hemoglobin electrophoresis examination, HbF does not increase, no abnormal hemoglobin; 6 cases showed no obvious hemolysis; 2 cases examined the red blood cells