Glutathione Reductase Deficiency in Association with Sickle Cell and Thalassaemia Genes in Saudi Populations

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Abstract
Glutathione reductase (GR) deficiency is reported to occur with a variable frequency in some populations of the world. The populations of 2 regions of Saudi Arabia which have a high frequency of sickle cell, thalassemia and glucose-6-phosphate dehydrogenase (G-6-PD) deficiency, were screened for GR deficiency. The frequency of GR deficiency with other genetic blood disorders was investigated. The frequencies of complete GR deficiency were 0.0065 and 0.006, while those of partial deficiency were 0.146 and 0.074 in Al-Hafouf and Khaiber, respectively. GR deficiency was encountered in combination with the sickle gene, the G-6-PD deficiency gene and the thalassemia gene in both regions. Individuals with GR deficiency showed slightly reduced hematological parameters. In thalassemic/GR-deficient subjects, mean cell volume and mean cell Hb were low, while in sickle cell anemia patients with GR deficiency tha hematological parameters were higher than in sickle cell anaemia patients without GR deficiency.