Abstract
α thalassemia is rarely diagnosed in Australian families of British or Northern European ancestry. In 1972, a third generation Australian was shown to have α thalassemia. In the absence of known Mediterranean or South East Asian ancestry it was reported as being the first example of α thalassemia in an Australian family. Further study of the proposita in 1985 using DNA mapping of the α globin gene complex, shows a distinctive molecular defect identical to the British type of α thalassemia. The latter is clearly different from the commonly encountered Mediterranean and South East Asian α° haplotypes. Recognition that α° thalassemia occurs in Australians is important since it may produce a microcytic hypochromic anemia. Its inheritance together with other forms of α°thalassemia may lead to severe Hb H disease or Hb Bart's hydrops fetalis.