Comparison of hemoglobin F production in different forms of β thalassemia intermedia
Genotype . | Hb, g/dL . | Gγ Xmn-1 . | Hb F, % . | α/β + γ synthesis . | References . |
|---|---|---|---|---|---|
| β Thal heterozygote | |||||
| αα/αα | 11-14 | NA | 1-4 | 1.8-2.2 | Weatherall and Clegg11 |
| ααα/αα | |||||
| Present study | 7.4 | +/– | 1.1, 1.9 | NA | P |
| Other studies | 6.5-12.7 (9.9) | NA | 0.9-13.6 (4.6) | 1.4-3.3 (2.6) | Traeger-Synodinos et al4 , Bianco et al5 , Camaschella et al7 |
| ααα/ααα | |||||
| Present study | 6.8 | –/– | 2.0 | 2.7 | P |
| Other studies | 7.1-12.1 (9.1) | NA | 0.4-10 (3.8) | 2.5-3.9 (3.1) | Galanello et al1 , Traeger-Synodinos et al4 , Bianco et al5 , Ho et al6 |
| αααα/αα | |||||
| Present study | 7.6, 10.8 | –/– | 1.1, 1.3 | NA | P |
| Other studies | 7.5-10.6 (8.2) | NA | 1.4-5.1 (3.0) | 2.9 | Thompson et al8 , Beris et al9 , Gu et al10 |
| αααα/αααα | 6.7 | –/– | 4.6 | 3.2 | P |
| Hb E β thal | |||||
| αα/αα | 3.8-7.2 (5.1) | –/– | 8-38 (20.1) | 3.1 | P |
| αα/αα | |||||
| Present study | 5.6-8.4 (6.9) | +/+ | 31-49 (40.2) | 2.0 | P |
| Other studies | 4.6-10.5 (7.6) | NA | 8-60 (40.1) | 1.4-3.3 (2.4) | Rees and colleagues15,16 |
| ααα/αα | 4.5 | –/– | 15 | NA | P |
| ααα/αα | 5.6 | +/+ | 42 | NA | P |
| Mild β thal intermedia | |||||
| β-88C→T/β-88 C→T | 9.8-12.3 | * | 4 0-72 | NA | Weatherall and Clegg11 , Huisman et al17 |
| β-87 C→G/β-87 C→G | 9.4 | NA | 65 | NA | Weatherall and Clegg11 , Huisman et al17 |
| β-31 A→G/β-31 A→G | 7.2 | NA | 14 | 2.9 | Weatherall and Clegg11 , Huisman et al17 |
| β-30 T→A/β-30 T→A | 10 | NA | 12-14 | NA | Weatherall and Clegg11 , Huisman et al17 |
| β-29 A→G/β-29 A→G | 10-12 | * | 25-67 | NA | Weatherall and Clegg11 , Huisman et al17 |
| β cod19A→G/βcod19A→G | 8.5-9 | NA | 10-25 | NA | Weatherall and Clegg11 , Huisman et al17 |
| βIVS1-6T→C/βIVS1-6T→C | 5-9.9 (7.6) | * | 2.4-45 (11.5) | NA | Huisman et al17 |
| β° or β+ thal/β-110C→T | 7.4-12.2 (9.7) | NA | 4.2-46 (21.7) | 1.6-2.8 (2.1) | Bianco et al5 |
Genotype . | Hb, g/dL . | Gγ Xmn-1 . | Hb F, % . | α/β + γ synthesis . | References . |
|---|---|---|---|---|---|
| β Thal heterozygote | |||||
| αα/αα | 11-14 | NA | 1-4 | 1.8-2.2 | Weatherall and Clegg11 |
| ααα/αα | |||||
| Present study | 7.4 | +/– | 1.1, 1.9 | NA | P |
| Other studies | 6.5-12.7 (9.9) | NA | 0.9-13.6 (4.6) | 1.4-3.3 (2.6) | Traeger-Synodinos et al4 , Bianco et al5 , Camaschella et al7 |
| ααα/ααα | |||||
| Present study | 6.8 | –/– | 2.0 | 2.7 | P |
| Other studies | 7.1-12.1 (9.1) | NA | 0.4-10 (3.8) | 2.5-3.9 (3.1) | Galanello et al1 , Traeger-Synodinos et al4 , Bianco et al5 , Ho et al6 |
| αααα/αα | |||||
| Present study | 7.6, 10.8 | –/– | 1.1, 1.3 | NA | P |
| Other studies | 7.5-10.6 (8.2) | NA | 1.4-5.1 (3.0) | 2.9 | Thompson et al8 , Beris et al9 , Gu et al10 |
| αααα/αααα | 6.7 | –/– | 4.6 | 3.2 | P |
| Hb E β thal | |||||
| αα/αα | 3.8-7.2 (5.1) | –/– | 8-38 (20.1) | 3.1 | P |
| αα/αα | |||||
| Present study | 5.6-8.4 (6.9) | +/+ | 31-49 (40.2) | 2.0 | P |
| Other studies | 4.6-10.5 (7.6) | NA | 8-60 (40.1) | 1.4-3.3 (2.4) | Rees and colleagues15,16 |
| ααα/αα | 4.5 | –/– | 15 | NA | P |
| ααα/αα | 5.6 | +/+ | 42 | NA | P |
| Mild β thal intermedia | |||||
| β-88C→T/β-88 C→T | 9.8-12.3 | * | 4 0-72 | NA | Weatherall and Clegg11 , Huisman et al17 |
| β-87 C→G/β-87 C→G | 9.4 | NA | 65 | NA | Weatherall and Clegg11 , Huisman et al17 |
| β-31 A→G/β-31 A→G | 7.2 | NA | 14 | 2.9 | Weatherall and Clegg11 , Huisman et al17 |
| β-30 T→A/β-30 T→A | 10 | NA | 12-14 | NA | Weatherall and Clegg11 , Huisman et al17 |
| β-29 A→G/β-29 A→G | 10-12 | * | 25-67 | NA | Weatherall and Clegg11 , Huisman et al17 |
| β cod19A→G/βcod19A→G | 8.5-9 | NA | 10-25 | NA | Weatherall and Clegg11 , Huisman et al17 |
| βIVS1-6T→C/βIVS1-6T→C | 5-9.9 (7.6) | * | 2.4-45 (11.5) | NA | Huisman et al17 |
| β° or β+ thal/β-110C→T | 7.4-12.2 (9.7) | NA | 4.2-46 (21.7) | 1.6-2.8 (2.1) | Bianco et al5 |
Weatherall and Clegg11 and Huisman et al17 provide references for many of the original descriptions of these conditions and further data on Hb F production in β thalassemia intermedia. Figures in parentheses show mean values for genotypes for which there are sufficient published data. Numbers of patients studied are shown in text.
P indicates present study; NA, not applicable.
These mutations occur on several different β globin gene haplotypes. β-88C→T and β-29A→G are found most commonly with Gγ-158 C(+)