| Phenotype: | Hemolytic anemia due to G6PD deficiency (Glucose-6-phosphate dehydrogenase deficiency) |
|---|---|
| Dna Change: | c.563C>T |
| Protein Change: | p.Ser188Phe |
| Mutation Type: | |
| Mutation Effect: | |
| Location: | Exon 6 |
| Transcript: | NM_001042351.1 |
| Population | Ethnic Group | Region | Mutation Frquency | Coalescence Time | Reference |
|---|---|---|---|---|---|
| Italy | NA | NA | 69% (allele frequency) | NA | Martinez di Montemuros F et al., 1997Martinez di Montemuros F, Dotti C, Tavazzi D, Fiorelli G, Cappellini MD, . Molecular heterogeneity of glucose-6-phosphate dehydrogenase (G6PD) variants in Italy.. Haematologica. 1997; 82(4):440-5 |
| Tunisia | NA | NA | 3 patients/ 41 unrelated patients (11 females and 30 males) | NA | Daoud BB et al., 2008Daoud BB, Mosbehi I, Préhu C, Chaouachi D, Hafsia R, Abbes S, . Molecular characterization of erythrocyte glucose-6-phosphate dehydrogenase deficiency in Tunisia.. Pathol. Biol.. 2008; 56(5):260-7 |
| Turkey | NA | NA | 80% (40 patients /50 unrelated male subjects) | NA | Oner R et al., 2000Oner R, Gümrük F, Acar C, Oner C, Gürgey A, Altay C, . Molecular characterization of glucose-6-phosphate dehydrogenase deficiency in Turkey.. Haematologica. 2000; 85(3):320-1 |
Daoud BB, Mosbehi I, Préhu C, Chaouachi D, Hafsia R, Abbes S, Molecular characterization of erythrocyte glucose-6-phosphate dehydrogenase deficiency in Tunisia.Pathol. Biol.. 2008; 56(5):260-7
Martinez di Montemuros F, Dotti C, Tavazzi D, Fiorelli G, Cappellini MD, Molecular heterogeneity of glucose-6-phosphate dehydrogenase (G6PD) variants in Italy.Haematologica. 1997; 82(4):440-5
Oner R, Gümrük F, Acar C, Oner C, Gürgey A, Altay C, Molecular characterization of glucose-6-phosphate dehydrogenase deficiency in Turkey.Haematologica. 2000; 85(3):320-1