Red Cell Glucose 6-Phosphate Dehydrogenase Deficiency in the Northern Region of Turkey: Is G6PD Deficiency Exclusively a Male Disease?

Abstract

Glucose-6-phosphate dehydrogenase (G6PD) deficiency is an X-linked recessive genetic defect that can cause hemolytic crisis. However, this disease affects both males and females. In Turkey, the frequency of this enzyme deficiency was reported to vary, from 0.25 to 18%, by the geographical area. Its prevalence in the northern Black Sea region of Turkey is unknown. The aims of this study were to assess the prevalence of G6PD deficiency in the northern region Turkey in children and adults with hyperbilirubinemia and hemolytic anemia. This report included a total of 976 G6PD enzyme results that were analyzed between May 2005 and January 2014. G6PD deficiency was detected in 5.0% of all patients. G6PD deficiency was significantly less frequent in females (1.9%, 6/323) than in males (6.6%, 43/653). G6PD deficiency was detected in 3.7% of infants with hyperbilirubinemia, 9.2% of children, and 4.5% of adults with hemolytic anemia. In both the newborn group and the group of children, G6PD deficiency was significantly more frequent in males. In the combined group of children (groups I and II), the proportion of males was 74% and 67% in all groups (P = .0008). In conclusion, in northern region of Turkey, G6PD deficiency is an important cause of neonatal hyperbilirubinemia and hemolytic crisis in children and adults. This study suggests that most pediatricians thought that G6PD deficiency is exclusively a male disease. For this reason, some female patients may have been undiagnosed.

Prevalence of glucose-6-phosphate dehydrogenase (G6PD) deficiency in malaria endemic region of Iran (Sistan and Baluchestan Province): Epidemiological profile and trends over time

“…According to the previous epidemiologic studies, the prevalence rate of G6PD deficiency is higher among males than females [11,27,[30][31][32][33][34][35]. In line with these studies, the current study also revealed a higher prevalence rate of G6PD deficiency among males compared to the females.…”

Prevalence of glucose-6-phosphate dehydrogenase deficiency in neonates in Egypt

“…Determination of the frequency of enzyme deficiency in female subjects has gone unstudied with heterozygotes for enzyme deficiency assumed not to be at risk for many years. 24 , 25 Heterozygotes may suffer severe neonatal jaundice with a risk equal to that observed in heterozygous male subjects. G6PD deficiency is not infrequent among females even with this particular inheritance pattern.…”

Dosage Compensation in Females with X-Linked Metabolic Disorders

“…Heterozygous females manifest a wider range of G6PD deficiency. Their cells deficient in G6PD are as prone to hemolysis as in male patients [ 187 , 188 , 189 , 190 ], so clinical symptoms in females vary depending on the amount of active enzyme and the percentage of expression of the abnormal allele in erythrocytes. By the degree of XCI skewing, three heterozygous female phenotypes arise 10% with normal, 80% with intermediate, and 10% with low enzyme activity [ 191 , 192 ].…”

“…By the degree of XCI skewing, three heterozygous female phenotypes arise 10% with normal, 80% with intermediate, and 10% with low enzyme activity [ 191 , 192 ]. Ultimately, as a result, most heterozygous females exhibit significantly fewer symptoms depending on the XCI pattern [ 188 , 190 ]. Homozygosity for the abnormal G6PD gene does not happen often, and these females are just as severely affected as men [ 193 ].…”