Alpha thalassemia British type (alpha alpha/--Brit) in an Australian family.
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.
D000328:Adult; D001315:Australia; D004247:DNA / Q000235:genetics / Q000302:isolation & purification; D004262:DNA Restriction Enzymes; D005260:Female; D006580:Genetic Carrier Screening; D006720:Homozygote; D006801:Humans; D008297:Male; D013789:Thalassemia / Q000097:blood / Q000235:genetics*; D006113:United Kingdom / Q000208:ethnology
D004247:DNA; D004262:DNA Restriction Enzymes