ABSTRACT
A new deficient glucose 6-phosphate dehydrogenase (G6PD) variant, G6PD Thessaloniki, which was found in the red blood cells of a 70-year-old woman who had idiopathic myelofibrosis, is described. G6PD Thessaloniki had a low Michaelis constant (Km) for G6P (20 microM), high Km for NADP (10.1 microM), normal pH optimum, reduced heat stability, decreased electrophoretic mobility (96-98% of the normal), increased 2-deoxy-G6P and decreased galactose 6-phosphate utilization. Several other enzymatic activities measured in the patient's red blood cells were normal. Studies of red blood cell survival and glucose utilization gave evidence of haemolysis caused by defective glucose utilization by the pentose phosphate pathway. The only son of the patient had normal G6PD in his red blood cells. In an attempt to investigate the origin of G6PD Thessaloniki, heat stability tests of G6PD extracted from the patient's skin have been performed.
Subject(s)
Glucosephosphate Dehydrogenase Deficiency/complications , Glucosephosphate Dehydrogenase/genetics , Primary Myelofibrosis/complications , Aged , Biopsy , Erythrocytes/enzymology , Female , Genetic Variation , Glucosephosphate Dehydrogenase/metabolism , HumansABSTRACT
The C3 complement types were studied in 463 patients with thyroid diseases and in 211 controls. There were no significant differences with respect to gene or phenotype frequencies between patient groups and controls. In the total sample, the gene frequencies are similar to those found in other European populations.
