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Association of red cell glucose-6-phosphate dehydrogenase with haemoglobinopathies
Insights
Glucose-6-phosphate dehydrogenase (G6PD) deficiency is linked to sickle-cell and thalassaemia genes in Saudi Arabs. These genetic traits may have evolved together due to malaria prevalence.
Area of Science:
- * Genetics
- * Hematology
- * Evolutionary Biology
Background:
- * Glucose-6-phosphate dehydrogenase (G6PD) deficiency is a common inherited red blood cell disorder.
- * Sickle-cell disease and thalassaemia are significant inherited hemoglobinopathies.
- * Understanding the distribution and potential associations of these genetic conditions is crucial for public health in Saudi Arabia.
Purpose of the Study:
- * To investigate the phenotypic distribution of red cell glucose-6-phosphate dehydrogenase (G6PD) and 6-phosphogluconate dehydrogenase (6PGD) in a Saudi Arab population.
- * To examine the association between G6PD deficiency, sickle-cell gene, and thalassaemia.
- * To explore potential evolutionary links between these genetic conditions.
Main Methods:
- * Phenotypic screening of 1,112 Saudi Arabs in Jeddah using starch gel electrophoresis and dye-decolouration tests.
- * Investigation of haemoglobin and thalassaemia using globin-chain biosynthesis and column chromatography.
- * Statistical analysis (chi-squared test) to determine genetic associations.
Main Results:
- * Significant associations were found between G6PD deficiency (Gd- alleles) and the sickle-cell gene in both males and females.
- * A similar association was observed between G6PD deficiency and alpha-thalassaemia and beta-thalassaemia in both sexes.
- * No association was detected between 6-phosphogluconate dehydrogenase (6PGD) types and haemoglobin genes.
Conclusions:
- * The red cell G6PD deficiency, sickle-cell, and thalassaemia genes show significant associations in the studied Saudi Arab population.
- * These findings suggest a possible co-evolutionary origin for these genetic traits, potentially driven by malaria.
- * Further research is warranted to confirm these evolutionary hypotheses.
Abstract:
A total of 1,112 randomly selected Saudi Arabs, of both sexes, living in Jeddah and the surrounding areas were screened for the phenotypic distribution of red cell glucose-6-phosphate dehydrogenase (G6PD) and 6-phosphogluconate dehydrogenase (6PGD). They were also investigated for haemoglobin and for thalassaemia. Phenotyping of the haemoglobins and the red cell enzymes was carried out by starch gel electrophoresis and the dye-decolouration screening test, while the investigation for thalassaemia was carried out by globin-chain biosynthesis, followed by column chromatography. The red cell Gd- alleles were significantly associated with the sickle-cell gene in both the males (chi 2(1): AS-28.80; SS-4.89) and females (chi 2(1): AS-10.99; SS-13.16). A similar association was also observed between G6PD deficiency and thalassaemias in males (chi 2(1): alpha-thalassaemia - 3.13; beta-thalassaemia - 11.06) and females (chi 2(1): alpha-thalassaemia - 6.63). However, no such association was detected between red cell 6PGD types and haemoglobin genes. The results suggest that the red cell G6PD deficiency, sickle-cell and thalassaemia genes might have evolved as a result of the same ecological factor, probably malaria.