Article
Clinical and haematological consequences of recurrent G6PD mutations and a single new mutation causing chronic nonspherocytic haemolytic anaemia.
British journal of haematology - 1 Jun 1998
Vulliamy T J, Kaeda J S, Ait-Chafa D, Mangerini R, Roper D, Barbot J, Mehta A B, Athanassiou-Metaxa M, Luzzatto L, Mason P J
Abstract excerpt
We have determined the causative mutation in 12 cases of glucose-6-phosphate dehydrogenase deficiency associated with chronic non-spherocytic haemolytic anaemia. In 11 of them the mutation we found had been previously reported in unrelated individuals. These mutations comprise seven different missense mutations and a 24 base pair deletion. G6PD Nara, previously found in a Japanese boy. Repeated findings of the...
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