[Molecular-genetic studies of carrier stage of glucose-6-phosphate dehydrogenase deficiency].

OBJECTIVE

Determining the reliability of a new DNA analysis in the detection of carriers of 6 mutations that cause glucose-6-phosphate dehydrogenase (G6PD) deficiency.

DESIGN

Validation of a diagnostic test.

SETTING

Central Laboratory of the Netherlands Red Cross Blood Transfusion Service in Amsterdam, the Netherlands.

METHOD: With polymerase chain reactions (PCR) and restriction enzyme analyses, the DNA of 78 proven patients or carriers was compared with the DNA of 51 patients suffering from haemolytic anaemia (possibly due to G6PD deficiency) and of 50 healthy blood donors.

RESULTS

In 60 of the 78 patients, 1 or 2 of the 6 mutations were found that lead--according to the literature--to G6PD deficiency. In 2 of the 51 anaemic patients a clinically relevant mutation was found, while such a mutation was revealed in 3 of the 50 blood donors. All 3 had been born in Curaçao or Surinam, areas with a higher incidence of G6PD deficiency than the Netherlands.

CONCLUSION

In comparison with G6PD activity tests, which leave 50% of carriers undetected, the described PCR method is a reliable test. Because G6PD activity measurement is independent of mutation analysis, we conclude that a combination of these tests will detect carriers of G6PD deficiency with a higher sensitivity than either of these tests separately.