Haemoglobin fractions, β-globin genotypes and clinical phenotypes in a family affected with Hb D and β+-thalassemia trait
| Patient | Gender | Hb A (%) | Hb A 2 (%) | Hb F (%) | Hb D (%) | β-globin genotype | Clinical phenotype |
| 1 | M | 95.1 | 4.3 | 0.6 | N | c.92+5G>C/normal | β-thalassemia trait |
| 2 | F | 60.8 | 2.3 | <0.5 | 36.9 | Normal/c.364G>C | Hb D-carrier |
| 3 | F | 97.5 | 2.5 | <0.5 | N | Normal/normal | Normal |
| 4 | F | 58.4 | 2.7 | 0.5 | 38.9 | Normal/c.364G>C* | Hb D-carrier |
| 5 | M | 97.5 | 2.5 | <0.5 | N | Normal/normal | Normal |
| 6 | M | 3.5 | 4.7 | <0.5 | 91.8 | c.92+5G>C/c.364G>C* | Hb D/β-thalassemia trait |
| 7 | F | 96 | 4 | <0.5 | N | c.92+5G>C/normal* | β-thalassemia trait |
| 8 | M | 96.9 | 2.8 | 0.3 | N | Normal/normal | Normal |
| 9 | F | 97.0 | 2.6 | 0.4 | N | Normal/normal | Normal |
Hb fractions on the Minicap Flex Piercing CZE system, β-globin genotypes and clinical phenotypes are presented. N denotes absent.
*Extrapolated genotype.
CZE, capillary zone electrophoresis.