摘要
对8例异型血红蛋白病首证者家系进行调查,共调查96人。经血红蛋白电泳异常区带含量测定,发现在同一家系中含有相同的血红蛋白类型,受累者达34人,占调查人数的35.4％,证明异常血红蛋白病呈常染色体显性遗传,遗传类型为杂合子,无明显临床症状,不易发现。却可绵延后代而成为病变基因携带者,有生产纯合子病人的危险性,应予以重视。
Pedigrees of 8 propositi of abnormal hemoglobinopathies were surveyed. The subjects in this survey totaled 98. Through estimation of the content of abnormal band by hemoglobin electrophoresis, we found that the same type of hemoglobin was contained in the same pedigree. The involved amounted to 34 persons and made up 35. 4per cent of surveyed persons. It shows that abnormal hemoglobinopathies exhibits autosomal dominant inheritance and the type of inheritance is heterozygous. The involved exhibited no apparent clinical symptoms and were not easy to detect, but their sick gene can be delivered to the descendent to make them carriers. And there may still be a risk to cause homozygous disease, so attention should be pain to it.
关键词
血红蛋白病
家系调查
遗传学
hemoglobins
abnormal
pedigree survey
genetics
