Wilkinson T, Yakas J, Kronenberg H, Trent R J
Pathology. 1986 Apr;18(2):193-5. doi: 10.3109/00313028609059458.
Alpha thalassemia is rarely diagnosed in Australian families of British or Northern European ancestry. In 1972, a third generation Australian was shown to have alpha thalassemia. In the absence of known Mediterranean or South East Asian ancestry it was reported as being the first example of alpha thalassemia in an Australian family. Further study of the proposita in 1985 using DNA mapping of the alpha globin gene complex, shows a distinctive molecular defect identical to the British type of alpha thalassemia. The latter is clearly different from the commonly encountered Mediterranean and South East Asian alpha zero haplotypes. Recognition that alpha zero thalassemia occurs in Australians is important since it may produce a microcytic hypochromic anemia. Its inheritance together with other forms of alpha thalassemia may lead to severe Hb H disease or Hb Bart's hydrops fetalis.
α地中海贫血在英裔或北欧裔澳大利亚家庭中很少被诊断出来。1972年，一名第三代澳大利亚人被发现患有α地中海贫血。由于其家族没有已知的地中海或东南亚血统，该病例被报道为澳大利亚家庭中首例α地中海贫血病例。1985年，通过对先证者进行α珠蛋白基因复合体的DNA图谱分析进一步研究发现，其存在一种与英国型α地中海贫血相同的独特分子缺陷。后者明显不同于常见的地中海和东南亚α0单倍型。认识到澳大利亚人也会发生α0地中海贫血很重要，因为它可能导致小细胞低色素性贫血。它与其他形式的α地中海贫血一起遗传，可能会导致严重的血红蛋白H病或巴氏水肿胎儿血红蛋白病。
