【摘要】 <正>血红蛋白(简称Hb)病与6-磷酸葡萄糖脱氢酶缺陷(以下简称G6PD缺陷)在我国均多发于两广、川地区。其中重型β海洋性贫血(Cooley’s贫血)、血红蛋白H病、Hb-E综合征及异常Hb、G6PD缺陷等已有不少报道。国内已报告广东地区Hb-H病,α海洋性贫血基因发生率。为了进一步了解广东地区Hb病发生率及Hb病与G6PD缺陷之间的遗传关系,并探索此二种遗传性疾病的遗传规律,作者等在广东中山县石歧镇对当地部份小儿、成人中进行了调查。现将结果报道如下。更多还原

【Abstract】 In order to determine the incidence of hemoglobincpathy in Guangdong and the genetic relationship between hemoglobinopathy and gluccse-6-phosphate dehydrogenase deficiency, we surveyed 1,119 apparent normal subjects living in the town of Shiqi, Zhongshan County, Guangdong. The investigation included the following: medical history, physical check-up and related hematological examinations involving such as erythrocytic morphology, quantities of hemoglobin A2 and alkali-resistant hemoglobin, electrophoresis for screening abnormal hemoglobins, 17% isopropanol test and methemoglobin reduction rate. For those who had elevated hemoglobin A2 or alkali-resistant hemoglobin, RBC and reticulocyte counts, hemoglobin concentration and osmotic fragility were also determined. It turned out that 19 cases (1.7%) were suffering from heterozygous β thalassemia. Among these, 13 cases showed slight anemia, 12 cases abnormal morphology of erythrocytes, and 14 cases decreased osmotic fragility. This indicates that most of the patients had marked clinical or hematological alterations and this is perhaps due to the fact that what Chinese patients suffer from is mostly β° thalassemia.Besides, 5 cases were found to have an elevation of hemoglobin F. Three of them displayed slight clinical and/or hematological abnonnalities such as erythrocytic morphologic alterations and decreased osmotic fragility. But no abnormal hemoglobin had been found.Although in this series the incidence of glucose-6-phosphate dehydrogenase deficiency were 5.02%, no close correlation between these two here- ditary diseases had been found.更多还原