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大量不同种类的血液病通过产前诊断已能被检出。这些病人经胎儿血液或DNA检查后报到遗传性贫血症产前监测国际登记处,但无一例导致溶血性贫血的红细胞酶病作了报告。这也并不使人感到意外。因实际上许多红细胞酶病唯一的临床表现是溶血性贫血,很少造成有害影响。另外,以溶血性贫血为一组成部分的多系统疾病的遗传病相当罕见,而且这些缺陷能通过胎儿上皮细胞直接检测出酶的缺乏。 1976年Piomelli等报告葡萄糖磷酸异构酶(glucose phosphate isomerase-GPI;E.C.5.3.1.9)被认为是由于红细胞酶缺乏造成临床上显著的先天性非球形红细胞溶血性贫血最常见的原因之一。1974年Hutton等指出,尽管大多数病例是比较轻的,但已知道病人有十分严重的溶血性疾病,在这些家族中的一人,于妊娠晚期已通过培养的羊
A large number of different kinds of blood diseases have been detected by prenatal diagnosis. These patients report to the International Registry of Hereditary Anemia Prenatal Surveillance after examination of fetal blood or DNA, but none of the cases of hemolytic anemia causing erythrocytic enzymes have been reported. This is not surprising either. In fact, the only clinical manifestation of many erythrocytic enzymes is hemolytic anemia, with few deleterious effects. In addition, hereditary diseases of multisystem diseases with hemolytic anemia as a component are rare and these deficiencies directly detect the lack of enzyme through fetal epithelial cells. In 1976, Piomelli et al. Reported that glucose phosphate isomerase-GPI (E.C.5.3.1.9) was considered to be one of the most common causes of clinically significant congenital non-spherical hemolytic anemia due to a deficiency of the enzyme erythrocytes. In 1974, Hutton et al. Pointed out that although most cases are relatively mild, it is known that the patient has a very serious haemolytic disease and one of these families has passed the culture of sheep in late pregnancy