Chan V, Chan T K, Cheng M Y, Kan Y W, Todd D
Br J Haematol. 1986 Sep;64(1):97-105. doi: 10.1111/j.1365-2141.1986.tb07577.x.
Analysis of alpha and zeta genes in 101 healthy normals and hospitalized patients with non-haematological diseases revealed a 3% incidence of alpha thalassaemia in the local Chinese population of Hong Kong. Triple alpha genes were found in only one person while triple zeta genes were more prevalent, occurring in 13 subjects. Studies of 28 unselected patients with Hb H disease indicated a predominance of the rightward alpha gene deletion. The extent of alpha gene deletion in homozygous alpha thalassaemia 1 was at least 18.1 kb, beginning from the BamH I site 3' to the zeta 1 gene and includes the psi alpha, alpha 2 and alpha 1 genes. Nineteen of the 20 chromosomes bearing the alpha thalassaemia 1 deletion had identical zeta-intergenic hypervariable region suggesting a common origin of this mutation. The co-inheritance of alpha thalassaemia in beta thalassaemia subjects was 8%, but did not ameliorate the clinical features of those with homozygous beta thalassaemia.
对101名健康正常人及患有非血液系统疾病的住院患者的α和ζ基因分析显示，香港当地中国人群中α地中海贫血的发病率为3%。仅在一人中发现了三重α基因，而三重ζ基因更为常见，在13名受试者中出现。对28例未经选择的Hb H病患者的研究表明，右侧α基因缺失占主导。纯合α地中海贫血1中α基因缺失的范围至少为18.1 kb，从ζ1基因3'端的BamH I位点开始，包括ψα、α2和α1基因。携带α地中海贫血1缺失的20条染色体中有19条具有相同的ζ基因间高变区，表明该突变有共同起源。β地中海贫血患者中α地中海贫血的共遗传率为8%，但并未改善纯合β地中海贫血患者的临床特征。
