British type alpha 0-thalassaemia in New Zealand
Trent, R.J.; Yakas, J.; Rutherford, J.; Blacklock, H.A.; Mickleson, K.N.
New Zealand Medical Journal 102(861): 39-41
1989
ISSN/ISBN: 0028-8446 PMID: 2739965 Document Number: 339684
.alpha.o-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.o-thalassaemia deletion involving both .alpha. globin genes. .alpha.o-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.