Summary
Two thousand people on the Isles of the Baleares were screened for glucose-6-phosphate dehydrogenase deficiency using a commerically available kit. Among the thousand males tested, five were found deficient; of the thousand women, one had low enzyme activity according to this test. Diagnosis of glucose-6-phosphate dehydrogenase deficiency could be verified using hair follicle analysis on mailed hair samples. The same technique also allowed heterozygotes to be identified unequivocally.
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References
Dowd B (1980) Glucose-6-phosphate dehydrogenase and its relationship to mental retardation. Med Hypotheses 6:7–11
Flatz G, Düren R (1967) Glucose-6-phosphate dehydrogenase deficiency in Spain. Humangenetik 4:81–83
Lyon MF (1961) Gene action in the X-chromosome of the mouse (mus musculus L.). Nature 190:372–373
Romeo G, Rinaldi A, Urbano F, Filippi G (1976) Hair root versus red cell individual phenotype in Sardinian heterozygotes for G6PD deficiency (Mediterranean type). Am J Hum Genet 28:506–513
Sansone G, Perroni L (1973) Variante A- della G6PD in un ceppo familiare di origine Siciliana. Pathologica 65:81–84
Schettini F, Meloni T (1967) Characterization of glucose-6-phosphate dehydrogenase in Sardinian children with congenital nonspherocytic haemolytic anaemia. Acta Haematol 37:198–205
Surinyach R (1951) Contribution al estudio de las hemopatias mediterraneas y del fabismo. Un foco balear. Medica Clinica 16:157–163
Vermorken AJM, Wirtz P, Spierenburg GT, van Bennekom CA, de Bruyn CHMM, Oei TL (1979) Glucose-6-phosphate dehydrogenase deficiency: biochemical and histochemical studies on hair roots for carrier detection. J Clin Chem Clin Biochem 17:325–329
Vermorken AJM, Markslag AMG, Goos CMAA, Miguel A, Ramon M, Petitpierre E (1982) Human hair follicles may be used for population screening of heterozygotes of glucose-6-phosphate dehydrogenase deficiency. Clin Genet 22:57–61
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Miguel, A., Ramon, M., Petitpierre, E. et al. Population screening for glucose-6-phosphate dehydrogenase deficiency on the baleares. Hum Genet 64, 176–179 (1983). https://doi.org/10.1007/BF00327120
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DOI: https://doi.org/10.1007/BF00327120