Losekoot M, Beijer C, Giordano P C, van Gemeren A D, Oei Y B, Bernini L F
Ned Tijdschr Geneeskd. 1989 Jun 17;133(24):1218-23.
In a Chinese family living in The Netherlands alpha 0- and beta-thalassaemia occur singly and in combined form. All members of the family are moderately anaemic and show the characteristic haematological abnormalities of thalassaemia carriers. The nature of the alpha 0-thalassaemia defect was shown at the molecular level to be a deletion of the South East Asian type, which removes about 20 kb of DNA spanning both alpha genes in cis. The chromosome carrying the beta-thalassaemia mutation was identified using RFLPs (restriction enzyme fragment length polymorphisms). The combined heterozygosity for alpha 0- and beta-thalassaemia results in a phenotype virtually indistinguishable from heterozygous beta-thalassaemia, except for the almost balanced globin chain synthesis.
在一个居住在荷兰的华裔家庭中，α0地中海贫血和β地中海贫血单独出现并呈联合形式。该家族所有成员均有中度贫血，并表现出地中海贫血携带者典型的血液学异常。在分子水平上，α0地中海贫血缺陷的性质显示为东南亚型缺失，该缺失顺式去除了跨越两个α基因的约20 kb DNA。使用限制性片段长度多态性（RFLPs）鉴定携带β地中海贫血突变的染色体。α0和β地中海贫血的联合杂合性导致的表型与杂合性β地中海贫血几乎无法区分，只是珠蛋白链合成几乎平衡。
