Double heterozygosity for glucose-6-phosphate dehydrogenase deficiency.
نویسندگان
چکیده
Erythrocyte glucose-6-phosphate dehydrogenase (G6PD) deficiency is an X-linked hereditary disorder (Browne, 1957). According to Gross, Hurwitz, and Marks (1958) males who are hemizygous for this disorder have low enzyme levels which vary from 0 to 20% of normal, and haemolysis occurs in association with exposure to certain drugs or illness. On the other hand, heterozygous females have intermediate or normal enzyme levels and overt haemolysis is mild or does not occur. However, severe haemolysis may be encountered in females who have low enzyme levels: such subjects may be homozygous for G6PD deficiency, heterozygous but with unusually severe penetrance (Stamatoyannopoulos et al, 1967), or, as in the two patients to be described, doubly heterozygous for two genes for G6PD deficiency.
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ورودعنوان ژورنال:
- Journal of medical genetics
دوره 8 2 شماره
صفحات -
تاریخ انتشار 1971