Giordano P C, Breuning M H
Leids Universitair Medisch Centrum, Leiden.
Ned Tijdschr Geneeskd. 2000 Sep 30;144(40):1910-3.
Haemoglobinopathies are the commonest autosomal recessive diseases in men. Mutations on the alpha and beta genes clusters, located on chromosome 16 and 11 respectively, have been strongly selected in many populations by the increased chance of survival of carriers in areas infested with malaria tropica. Unfortunately many of these mutations in homozygous or compound heterozygous forms generate severe phenotypes such as sickle cell disease and beta-thalassaemia major. The population at risk for haemoglobinopathies is increasing in the industrialized areas of northern Europe. Without preventive measures a cumulative number of 1,000 severely affected patients can be expected in the Netherlands if information and carrier diagnostics are not efficiently offered at the GP level. A specialized laboratory for postnatal and prenatal diagnosis has been available in Leiden for more than 10 years now; however, couples at risk are only sporadically referred for counselling and/or prenatal diagnosis.
血红蛋白病是男性中最常见的常染色体隐性疾病。分别位于16号和11号染色体上的α和β基因簇的突变，在许多人群中因热带疟疾流行地区携带者生存几率增加而被强烈选择。不幸的是，许多纯合或复合杂合形式的这些突变会产生严重的表型，如镰状细胞病和重型β地中海贫血。在北欧工业化地区，有患血红蛋白病风险的人群正在增加。如果在全科医生层面不能有效地提供信息和携带者诊断，预计荷兰累计将有1000名重症患者。莱顿有一家专门的产后和产前诊断实验室，至今已有10多年；然而，有风险的夫妇只是偶尔被转介进行咨询和/或产前诊断。
