Heterozygote detection in glucose‐6‐phosphate dehydrogenase deficiency: limitation of hair follicle analysis

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Abstract
Glucose-6-phosphate dehydrogenase deficiency was demonstrated in a case of favism. The X-linked enzyme defect was expressed in erythrocytes but not in hair root cells. The mother was shown to be a heterozygous carrier on the basis of intermediate erythrocyte glucose-6-phosphate dehydrogenase activity but was not identified as a carrier by hair root study. It may be necessary to test the hair roots of at least 1 enzyme-deficient member of the family to exclude false negative results, if hair root analysis is used for carrier detection. Because of the more or less clonal origin of hair roots, they remain a convenient biopsy material with which to study heterozygosity in X-linked inborn errors of metabolism.