Table 1
Haematological data and β thalassaemia genotype of the proband and his family
| Family members | ||||||||
|---|---|---|---|---|---|---|---|---|
| Proband | Father | Mother | Grandfather | Grandmother | Maternal aunt | Mother’s brother 1 | Mother’s brother 2 | |
| The proband’s peripheral blood was sampled on the 7th day after a blood transfusion. | ||||||||
| −28, −28 (A→G) mutation; 15–16, CDs15/16(+G) mutation; Hb, haemoglobin; MCH, mean cell haemoglobin; MCV, mean cell volume; N, normal; RBC, red blood cells; RDW, red cell distribution width. | ||||||||
| Sex | Female | Male | Female | Male | Female | Female | Male | Male |
| Age | 2 y 8 m | 33 | 32 | 56 | 56 | 34 | 30 | 28 |
| RBC (×1012) | 3.62 | 5.75 | 5.16 | 6.72 | 4.25 | 4.22 | 5.33 | 4.50 |
| Hb (g/l) | 78 | 127 | 98 | 134 | 126 | 118 | 156 | 134 |
| MCV (fl) | 66.0 | 68.9 | 56.4 | 59.1 | 84.2 | 82.0 | 83.7 | 84.0 |
| MCH (pg) | 21.5 | 22.1 | 19.0 | 19.9 | 29.6 | 28.0 | 29.3 | 29.8 |
| RDW (%) | 0.354 | 0.175 | 0.175 | 0.159 | 0.128 | 0.130 | 0.125 | 0.119 |
| HbA (%) | 82.89 | 93.85 | 94.7 | 94.46 | 97.72 | 97.03 | 97.25 | 97.73 |
| HbA2 (%) | 2.83 | 6.16 | 5.30 | 5.54 | 2.28 | 2.97 | 2.75 | 2.27 |
| HbF (%) | 14.27 | 0 | 0 | 0 | 0 | 0 | 0 | 0 |
| Genotype | −28/15–16 | −28/N | 15–16/N | 15–16/N | N/N | N/N | N/N | N/N |
