【摘要】 <正>血红蛋白E(简称HbE)综合征是一组常见的遗传性Hb病,自1954年Minnich等描述本病以来,世界各地陆续有所报道。本病主要分布于东南亚等地。有些地区发病率高达30％,国内也有不少报道。统计中山医学院第二附属医院儿科血液病实验室1964～1980年送检Hb电泳标本1,865份,发现HbE综合征32例,现将其中21例有关临床实验与遗传的资料作一分析讨论。更多还原

【Abstract】 This Paper reports on the clinical, experimental and genetic studies on twenty -one cases of hemoglobin E syndrome. Of these twenty - one cases,there were 11 cases of HbE/β° - Thalassemia and 10 cases of HbE traits. Theier proportion is about one to one. In high incidence area of th-alassemia, HbE geme is freguently combined with thalassemia gene to form double heterozygote.On the investigation of five families, we found nine cases of heterozygous β° - thalassemia, ten cases of HbE traits and eight cases of HbE/β° - thalassemia. This finding corresponds to the rule of autosomal dorminant inheritance. Parents of the patients with HbE/β° - thalassemia had heterozygous β° - thalassemia or HbE traits respectively. The of f springs had also HbE traits or heterozygous β°-th-alas semia.Of the 11 cases of HbE/β° - thalassemia, the clinical features of 9 cases were similar to those of typical β°- thalassemia major, though slightly milder. 2 cases resembled β°- thalassemia moderate or Hb - H disease. 2 cases were treated with splenectomy but were of no effect. Although anemia symptoms were not present in the 10 cases of HbE traits, all cases had mild anisocytosis and hypochromia. Of these cases, there were poikilocy tes, target cells and splenomegaly in 2 cases. Osmotic resistance was lowered in all cases , corresponding to what had been described in some recent reports. This repudiated the conclusion that "HbE traits are nota associated with hematologic abnormality" . Of all the 10 cases, HbE concentration was 32.0-45.5 per cent in seven cases. And in the other three cases, the concentration was 24.5-28.5 per cent and these cases might had combined The same time cc-thalassemia (HbEa/ α-Th-1 ).Most cases studied showed positive Heinz bodies formation and were unstable upon Hb screening tests, indicating that HbE is an slight unstable hemoglobin.更多还原