Association of G6PD202A,376G with lower haemoglobin concentration but not increased haemolysis in patients with sickle cell anaemia

作者：Nouraie Mehdi; Reading Noel S; Campbell Andrew; Minniti Caterina P; Rana Sohail R; Luchtman Jones Lori; Kato Gregory J; Gladwin Mark T; Castro Oswaldo L; Prchal Josef T; Gordeuk Victor R^*

来源：British Journal of Haematology, 2010, 150(2): 218-225.

DOI：10.1111/j.1365-2141.2010.08215.x

• sickle cell anaemia
• G6PD
• haemolysis
• alpha-thalassaemia
• haemoglobin concentration

P>The genetic bases of the highly variable degrees of anaemia and haemolysis in persons with Hb SS are not fully known, but several studies have indicated that G6PD deficiency is not a factor. The G6PD202A and G6PD376G alleles and alpha-thalassaemia were determined by molecular genetic testing in 261 children and adolescents with Hb SS in a multicentre study. G6PD202A,376G (G6PD A-) was defined as hemizygosity for both alleles in males and homozygosity in females. Among the participants 41% were receiving hydroxycarbamide. The prevalence of G6PD202A,376G was 13 center dot 6% in males and 3 center dot 3% in females with an overall prevalence of 8 center dot 7%. G6PD202A,376G was associated with a 10 g/l decrease in haemoglobin concentration (P = 0 center dot 008) but not with increased haemolysis as measured by lactate dehydrogenase, bilirubin, aspartate-aminotransferase, reticulocyte count or a haemolytic component derived from these markers (P > 0 center dot 09). Similar results were found within a sub-group of children who were not receiving hydroxycarbamide. By comparison, single and double alpha-globin deletions were associated with progressively higher haemoglobin concentrations (P = 0 center dot 005 for trend), progressively lower values for haemolytic component (P = 0 center dot 007), and increased severe pain episodes (P < 0 center dot 001). In conclusion, G6PD202A,376G may be associated with lower haemoglobin concentration in sickle cell anaemia by a mechanism other than increased haemolysis.

• 出版日期2010-7