Trent R J, Yakas J, Rutherford J, Blacklock H A, Mickleson K N
Haematology Department, Royal Prince Alfred Hospital, NSW, Australia.
N Z Med J. 1989 Feb 8;102(861):39-41.
Alpha zero-thalassaemia of the British type is described for the first time in a New Zealand family. Microcytic, hypochromic red blood cells were found in affected individuals. Exclusion of iron deficiency and beta-thalassaemia suggested alpha-thalassaemia as a possible cause. This was confirmed by the detection of haemoglobin (Hb) H inclusion bodies. Definitive characterisation of the alpha-thalassaemia defect required DNA mapping which demonstrated the British alpha zero-thalassaemia deletion involving both alpha globin genes. alpha zero-thalassaemia should no longer be considered a disorder affecting individuals of Mediterranean or Asian backgrounds. Anglo-Saxons are also an at risk group. Co-inheritance of this abnormality with a second alpha-thalassaemia defect can lead to Hb H disease or Hb Bart's hydrops fetalis.
首次在一个新西兰家庭中描述了英国型α地中海贫血。在受影响个体中发现了小细胞低色素性红细胞。排除缺铁和β地中海贫血后，提示α地中海贫血可能是病因。通过检测血红蛋白（Hb）H包涵体得以证实。α地中海贫血缺陷的确切特征需要进行DNA图谱分析，结果显示英国型α地中海贫血缺失涉及两个α珠蛋白基因。α地中海贫血不应再被视为仅影响地中海或亚洲背景个体的疾病。盎格鲁 - 撒克逊人也是高危群体。这种异常与另一种α地中海贫血缺陷的共同遗传可导致Hb H病或Hb Bart水肿胎儿综合征。
