Table 6.
Hematological parameters of the 5 heterozygous cocarriers of the β-globin gene mutation and the α-globin gene triplication
| Subject ID | Mut-01 | Mut-02 | Mut-03 | Mut-04 | Mut-05 |
|---|---|---|---|---|---|
| β-gene defects | Cds 41/42 (-TTCT) beta0 | Cds 71/72 (+ A) beta0 | IV-II-654 (C > T) beta+ | Cds 41/42 (-TTCT) beta0 | Cd17 (AAG > TAG) beta0 |
| α genotypes | αα/ααα4.2 | αα/ααα3.7 | αα/ααα3.7 | αα/ααα4.2 | αα/ααα4.2 |
| Anemia | severe | mild | mild | mild | no |
| Sex | M | M | M | M | F |
| Age (years) | 14 | 5 | 7 | 7 | 19 |
| HGB (g/L) | 59 | 80 | 85 | 78 | 134 |
| MCV (fL) | 58 | 68 | 73 | 59.6 | 97.5 |
| MCH | 17 | 25 | 24 | 18.5 | 30.9 |
| HbA | – | 97.7 | 90 | 91.9 | 97.5 |
| HbA2 | – | 4.3 | 3.7 | 5.8 | 2.5 |
| HbF | – | – | – | 2.3 | – |
| Hepato-splenomegaly | Splenomegaly | – | – | Splenomegaly | – |
| Transfusion | Y | N | N | N | N |
| Treatment and prognosis | b | a | a | c | a |
Cd, codon; M, male; F, female; Y, yes; N, no; a, no treatment and occasional follow-up; b, transfusion treatment (HGB < 80 g/L, transfused with washed red blood cells) and regular follow-up; c, transfusion treatment (HGB < 80 g/L, transfused with washed red blood cells) and occasional follow-up