Table 1.
Haematological and molecular details of Case 1 and Case 2
| Parameters | Case 1 | Case 2 |
|---|---|---|
| Age (years)/sex | 24/F | 26/M |
| Hb (g/dL) | 11.8 | 15.4 |
| Hct (%) | 38.0 | 49.0 |
| MCV (fL) | 82.8 | 86.4 |
| MCH (pg) | 29.3 | 30.6 |
| MCHC (g/dL) | 31.5 | 32.4 |
| RBC count (×106/µL) | 4.9 | 5.4 |
| RDW-CV (%) | 14.0 | 14.5 |
| TLC (×103/µL) | 6.8 | 7.2 |
| Platelets count (×103/µL) | 234 | 280 |
| HPLC | ||
| HbF% | 0.7 | 0.7 |
| HbA0% | 49.8 | 49.8 |
| Variant Hb% (in HbA2 window) | 43.1 | 42.1 |
| Results of gene sequencing in both cases | ||
| Gene sequencing | Single base substitution GAA > CAA (indicative of HbD-Iran in the heterozygous form) | Single base substitution GAA > CAA (indicative of HbD-Iran in the heterozygous form) |