Table 1.
Hematological parameters, Hb analysis, and genotypes of 20 Thai subjects with non-deletional HPFH.
| Case no. | Sex/age (year) | RBC (1012/L) | Hb (g/dL) | HCT (%) | MCV (fL) | MCH (pg) | MCHC (g/dL) | RDW (%) | Hb type | Hb E + A2 (%) | Hb A2 (%) | Hb F (%) | − 158 Gγ XmnI | KLF1 | α-genotype | β-genotype |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| − 202 Aγ (C>T) | ||||||||||||||||
| 1 | M/Adult | 5.7 | 14.8 | 44.6 | 77.7 | 26.0 | 33.2 | na | EFA | 30.5 | – | 8.7 | +/− | Normal | αα/αα | βE/βA |
| 2 | F/Adult | 5.1 | 12.1 | 35.8 | 70.1 | 23.7 | 33.8 | na | EFA | 21.9 | 3.9 | 9.4 | +/− | H299D | αα/αα | βE/βA |
| 3 | F/Adult | 4.4 | 10.8 | 33.3 | 76.0 | 24.8 | 32.5 | na | EFA | 20.5 | 3.4 | 11.7 | +/− | T334R | αCSα/αα | βE/βA |
| Total | 5.1 ± 0.7 | 12.5 ± 2.0 | 37.9 ± 5.9 | 74.6 ± 4.0 | 28.8 ± 1.2 | 33.2 ± 0.7 | 9.9 ± 1.6 | |||||||||
| − 196 Aγ (C>T) | ||||||||||||||||
| 4 | M/35 | 4.5 | 13.8 | 41.0 | 90.3 | 30.5 | 33.7 | 13.4 | A2FA | – | 2.6 | 12.2 | −/− | Normal | αα/αα | βA/βA |
| 5 | M/31 | 6.0 | 17.0 | 52.7 | 88.0 | 28.6 | 32.4 | 12.9 | A2FA | – | 1.6 | 15.1 | −/− | Normal | -α3.7/αα | βA/βA |
| 6 | M/Adult | 5.8 | 15.7 | 49.7 | 86.2 | 27.2 | 32.6 | 13.6 | A2FA | – | 1.5 | 15.7 | +/− | Normal | αα/αα | βA/βA |
| Total | 5.4 ± 0.8 | 15.5 ± 1.6 | 47.8 ± 6.1 | 88.2 ± 2.1 | 28.8 ± 1.7 | 32.9 ± 0.7 | 13.3 ± 0.4 | 14.3 ± 1.9 | ||||||||
| − 158 Aγ (C>T) | ||||||||||||||||
| 7 | M/29 | 5.7 | 15.9 | 46.6 | 81.2 | 27.7 | 34.1 | 13.8 | EA | 25.0 | – | 2.1 | +/+ | Normal | -α3.7/αα | βE/βA |
| 8 | M/Adult | 5.3 | 15.4 | 46.7 | 89.0 | 29.2 | 33.0 | 11.3 | EA | 29.6 | 3.8 | 3.2 | +/+ | Normal | αα/αα | βE/βA |
| 9 | F/Adult | 4.5 | 10.7 | 34.4 | 76.7 | 23.9 | 31.1 | 13.9 | A2A | – | 3.3 | 3.5 | +/− | Normal | -α3.7/αCSα | βA/βA |
| 10 | F/Adult | na | na | na | 79.3 | 26.2 | 33.0 | na | A2A | – | 3.0 | 4.2 | +/− | Normal | αCSα/αα | βA/βA |
| 11 | F/Adult | 4.8 | 12.0 | 35.4 | 74.2 | 25.2 | 33.9 | na | ConSpA2A | – | 2.3 | 4.4 | +/− | Normal | αCSα/αα | βA/βA |
| 12 | M/Adult | 4.6 | 12.6 | 38.0 | 82.9 | 27.3 | 33.0 | 12.5 | EA | 30.5 | 3.7 | 4.6 | +/+ | Normal | αα/αα | βE/βA |
| 13 | F/28 | 4.9 | 13.3 | 38.5 | 77.9 | 26.9 | 34.5 | 13.8 | EFA | 28.5 | 3.8 | 7.2 | +/− | Normal | αα/αα | βE/βA |
| 14 | F/Adult | 4.5 | 11.7 | 34.2 | 75.8 | 25.9 | 34.2 | na | EFA | 25.3 | – | 7.0 | +/+ | Normal | αα/αα | βE/βA |
| 15 | F/Adult | 3.4 | 10.8 | 31.8 | 78.5 | 26.7 | 34.0 | na | EFA | 27.8 | – | 11.0 | +/− | Normal | αα/αα | βE/βA |
| 16 | F/Adult | 4.3 | 11.6 | 35.4 | 83.0 | 27.4 | 32.9 | 13.3 | EFA | 29.1 | 3.8 | 11.5 | +/+ | Normal | αα/αα | βE/βA |
| 17 | M/2 | 5.9 | 12.0 | 36.0 | 60.9 | 20.3 | 33.3 | 18.7 | A2FA | – | 4.3 | 27.1 | +/− | Normal | -α3.7/αα | β17(AAG>TAG)/βA |
| 18 | M/Adult* | 5.3 | 13.8 | 42.0 | 80.0 | 26.0 | 32.9 | na | A2FA | – | 2.6 | 7.6 | +/+ | G176Afs*179 | -α3.7/αα | βA/βA |
| Total | 4.8 ± 0.7 | 12.7 ± 1.7 | 38.1 ± 5.0 | 78.3 ± 6.7 | 26.1 ± 2.2 | 33.3 ± 0.9 | 13.9 ± 2.3 | 7.8 ± 6.8 | ||||||||
| − 117 Aγ (G>C) | ||||||||||||||||
| 19 | M/Adult | na | na | na | 71.8 | na | na | na | EFA | 30.3 | 1.7 | 13.5 | +/− | Normal | αα/αα | βE/βA |
| − 530 Gγ (A>G) | ||||||||||||||||
| 20 | M/33* | 5.1 | 13.4 | 39.9 | 78.4 | 26.3 | 33.6 | 12.9 | A2FA | – | 2.6 | 11.5 | −/− | Normal | αα/αα | βA/βA |
*Found as homozygote, na: not available.