Table I.
Hematological features and genetic results of subjects with newly identified HBB mutations
| Parameter | Transfusion dependent novel mutation | Normal novel mutation | ||||||
|---|---|---|---|---|---|---|---|---|
| HBB:c.252C>T | HBB:c.281G>T | HBB:c.316-183_316-168del | HBB:c.316-114C>G | HBB:c.281G>T | HBB:c.315+208T>G | HBB:c.315+241T>A | ||
| HBB:c.315+376T>C | ||||||||
| N | 1 | 1 | 2 | 1 | 1 | 1 | 1 | |
| Region of mutation | Exonic | Exonic | Intronic | Intronic | Exonic | Intronic | Intronic | |
| Mutation type | Silent mutation | Missense mutation | Deletion | Point mutation | Missense mutation | Point mutation | Point mutation | |
| HBB reported mutations | HBB:c.118C>T; HBB:c.315+1G>A; HBB:c.253A>G; HBB:c.320T>C | HBB:c.118C>T; HBB:c.315+1G>A; HBB:c.26A>T | HBB:c.20A>T | HBB:c.20A>T | – | – | HBB:c.2T>C | – |
| Age | 9 | 9 | 13 | 12 | 7 months | 28 | 5 | 19 |
| Gender | M | M | F | F | F | M | F | M |
| Hb [g/dl] | 8.6 | 10.3 | 12.9 | 9 | 7.5 | 13.7 | 10.1 | 13 |
| HbF [g/dl] | 8.3248 | 10.0425 | 0.258 | 2.718 | 1.755 | 0.1096 | 0 | 0.039 |
| HbS (%) | – | – | 45 | 66.9 | – | – | – | – |
| HbA2 (%) | 3.2 | 2.5 | 2.4 | 2.9 | – | 3 | 6.1 | 2.8 |
| MCV [Fl] | 77 | 79 | 77 | 83.4 | 66 | 83.1 | 50.6 | 85.1 |
| α-Globin genotype | -α2 3.7/α1α2 | -α2 3.7/α1α2 | -α2 3.7/α1α2 | -α2 3.7/-α2 3.7 | – | -α2 3.7/α1α2 | α1α2/α1α2 | -α2 3.7/α1α2 |
| Haematological disease | Major β-thalassemic | Major β-thalassemic | Sickle cell anaemia | Sickle cell anaemia | HbH disease | – | β-Thalassemic carrier | – |