Table 1.
Hematological data and molecular results of the 8 new mutations of the δ-globin gene found in 12 subjects.
| δ Variant (Name) |
Sex-Age | RBC (×1012/L) |
Hb (g/dL) |
MCV (fL) |
MCH (pg) |
Hb A2
(%) |
Hb A2X (%) |
Iron Level |
HBD HGVS Nomenclature |
Other Globin Mutations | Case |
|---|---|---|---|---|---|---|---|---|---|---|---|
| δ130(-T) (Hb A2-Gaslini1) |
F-35 | 4.66 | 12.0 | 81.0 | 27.0 | 1.6 | n.d. | Normal | HBD:c.391delT | 1 | |
| δ36(C2)Pro > Arg (Hb A2-Sanremo) |
F-26 | 5.16 | 9.8 | 64.7 | 19.0 | 1.5 | n.d. | Low | HBD:c.110C > G | 2 | |
| M-58 | 4.69 | 14.1 | 87.6 | 30.1 | 1.5 | 0.5 | Normal | HBD:c.110C > G | 3 | ||
| δ3(NA3)Leu > Pro (Hb A2-Sile) |
F-26 | 4.20 | 13.0 | 90.8 | 31.1 | 1.7(a) | n.d. | Normal | HBD:c.11T > C | 4 | |
| δ74(E18)Gly > Asp (Hb A2-Asti) |
M-10 | 6.87 | 10.8 | 56.8 | 15.7 | 2.7 | n.d. | Normal | HBD:c.224G > A |
HBB:c.118C > T (cd39 C > T) |
5 |
| M-45 | 5.73 | 17.3 | 91.1 | 30.2 | 1.0 | n.d. | n.d. | HBD:c.224G > A |
HBA2:c.618C > A (Hb J Rovigo) |
6 | |
| δ144(HC1)Lys > Glu (Hb A2-Angola) |
F-33 | 3.93 | 11.8 | 82.2 | 28.2 | 2.0 | n.d. | n.d. | HBD:c.433A > G |
HBB:c.20A > T (HbS) |
7 |
| δ87(A4)Gln > Arg (Hb A2-Cremona) |
F-40 | 4.43 | 12.7 | 86.8 | 28.7 | 1.5 | 1.0 | Normal | HBD:c.263A > G | 8 | |
| δ7(A4)Glu > Asp (Hb A2-Pordenone) |
F-62 | 5.61 | 13.8 | 78.7 | 24.7 | 1.3 | 1.3 | Normal | HBD:c.24G > C | 9 | |
| F-80 | 4.91 | 14.1 | 90.4 | 28.7 | 1.6 | 1.4 | Normal | HBD:c.23A > C | 10 | ||
| δ7(A4)Glu > Ala (Hb A2-Udine) |
M-54 | 5.86 | 14.0 | 65.6 | 23.8 | 2.8 | 2.2 | Normal | HBD:c.23A > C |
HBB:c.118C > T (cd39 C > T) |
11 |
| F-26 | 5.28 | 13.3 | 78.8 | 25.1 | 1.8 | 1.2 | n.d. | HBD:c.23A > C | 12 |
n.d.: values not detected; (a): Hb A2-Normal + Hb A2-Sile.