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

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. Predictably, the mother shown to be a heterozygous carrier on the basis of intermediate erythrocyte glucose‐6‐phosphate dehydrogenase activity could not be identified as a carrier by means of hair root study. It seems to be necessary to test the hair roots of at least one 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.