[A severe G6PD deficiency revealed during a chemotherapy protocol including rasburicase.] Annales de biologie clinique [Ann Biol Clin (Paris)] Journal article

We present here the case-report of a man with a severe G6PD deficiency revealed after the use of rasburicase (uricolytic drug) during a chimiotherapy protocol. The genotypic analysis done to confirm the biochemical measurement revealed the 'Mediterranean mutation' at the hemizygous state (G6PD gene is located on chromosome X). Consequently to this diagnose, a search for G6PD deficiency has been performed (at the biochemical and genotypic levels) for the 9 children (7 daughters and 2 sons) of the proband. Surprisingly, one of his son was found to be hemizygous for the mediterranean mutation and one of his daughter appeared homozygous for this same mutation. This implies that the proband's wife (not studied) is certainly heterozygous for the mediterranean mutation, as it is very unlikely that this mutation had appeared de novo for two children of this couple.

Annales de biologie clinique [Ann Biol Clin (Paris)]