Analysis index

Activity determination: 2 ml EDTA-blood

G6PDH is heat instable. In room temperature (20°C), there is an approximate decrease of 10 % within 24 hours, at 4°C of only 5 % within 3 days. Accordingly, a cooling container (4°C) should be used if shipping of material takes longer. However, EDTA-blood should not be frozen!

Molecular genetic evaluation: 1 – 2 ml EDTA-blood and consent declaration (external services)

230 – 470 U/10¹² erythrocytes (for activity determination)

Activity determination: Suspicion of congenital G6PDH-deficiency (favism, X-chromosomal inheritance). Frequency: In central Europe 0,1 %, in European Mediterranean countries 3 – 30 %, Israel up to 60 %, in Africa 30 %, in Eastern Asia about 4 %.

Molecular genetic evaluation: Safe identification of the various G6PDH-variants in case of deficiencies. This may be especially relevant for family planning.

Please also refer to: Erythrocyte enzymes

G6PDH is heat instable (see above). Therefore, in case of clinical suspicion of G6PD deficiency and longer dispatch timings, a molecular genetic analysis is recommended.

Most people with G6PDH deficiency are symptom-free. There may be various degrees of clinical symptoms. Increased newborn jaundice, hemolytic anemia. In general, only clinically manifest in male descendants (X-chromosomal recessive inheritance). In female heterozygous carriers, there are either no symptoms or symptoms are milder. Hemolytic crisis with upper abdominal problems and lethargy only occur in severe defects and in connection with viral and bacterial infections as well as with the intake of certain drugs and vegetables.