Hematologic and Clinical Data of Subjects
| Subject . | Sex/ Age . | Ethnic Group . | β Genotype . | Hb (g/dL) . | MCV (fL) . | MCH (pg) . | HbA2 (%) . | HbF (%) . | α:Non-α Globin Chain Ratios-150 . | Clinical Phenotype . |
|---|---|---|---|---|---|---|---|---|---|---|
| Probands | ||||||||||
| Family L | ||||||||||
| I-1 (Proband) | M/50 | Chinese | β IVS 2-654/βN | 6.7 | 63.6 | 19.0 | 5.5 | 4.5 | 3.6 | TI |
| I-2 | F/45 | Irish | βN/βN | 11.6 | 92.2 | 30.4 | 3.0 | 0.6 | 1.2 | Normal |
| II-1 | M/23 | Chinese/Irish | βN/βN | 14.0 | 96.1 | 30.9 | 2.3 | 1.0 | 1.1 | Normal |
| II-2 | M/20 | Chinese/Irish | βN/βN | 15.0 | 88.6 | 28.6 | 2.6 | 0.8 | 1.1 | Normal |
| II-3 (Proband) | M/19 | Chinese/Irish | β IVS 2-654/βN | 8.6 | 68.8 | 20.8 | 4.2 | 9.5 | 3.8 | TI |
| Controls | ||||||||||
| Family C | ||||||||||
| I-1 | M/35 | English | β IVS 2-654/βN | 13.1 | 64.2 | 20.4 | 5.2 | 1.2 | 1.7 | TT |
| I-2 | F/34 | English | β IVS 2-654/βN | 11.6 | 68.0 | 21.0 | 5.6 | 1.9 | 1.8 | TT |
| II-1-151 | F/5 | English | β IVS 2-654/β IVS 2-654 | 7.9 | 87.0 | 29.0 | 2.2 | 98 | 3.5 | TM |
| MG | M/12 | English | β IVS 2-654/βN | 10.9 | 59.0 | 18.4 | 5.1 | 3.0 | ND | TT |
| ST | F/34 | Chinese | β IVS 2-654/βN | 11.3 | 61.9 | 19.1 | 4.4 | 1.5 | ND | TT |
| MY | F/24 | Chinese | β IVS 2-654/βN | 10.8 | 65.0 | 20.9 | 5.0 | 0.6 | ND | TT |
| RH | M/31 | Chinese | β IVS 2-654/βN | 13.2 | 66.0 | 21.2 | 5.0 | 1.5 | ND | TT |
| AH-151 | F/25 | Chinese | β IVS 2-654/I (Aγδβ)0 deletion | 9.0 | 85.7 | 30.8 | 1.8 | 3.3 | ND | TM |
| Subject . | Sex/ Age . | Ethnic Group . | β Genotype . | Hb (g/dL) . | MCV (fL) . | MCH (pg) . | HbA2 (%) . | HbF (%) . | α:Non-α Globin Chain Ratios-150 . | Clinical Phenotype . |
|---|---|---|---|---|---|---|---|---|---|---|
| Probands | ||||||||||
| Family L | ||||||||||
| I-1 (Proband) | M/50 | Chinese | β IVS 2-654/βN | 6.7 | 63.6 | 19.0 | 5.5 | 4.5 | 3.6 | TI |
| I-2 | F/45 | Irish | βN/βN | 11.6 | 92.2 | 30.4 | 3.0 | 0.6 | 1.2 | Normal |
| II-1 | M/23 | Chinese/Irish | βN/βN | 14.0 | 96.1 | 30.9 | 2.3 | 1.0 | 1.1 | Normal |
| II-2 | M/20 | Chinese/Irish | βN/βN | 15.0 | 88.6 | 28.6 | 2.6 | 0.8 | 1.1 | Normal |
| II-3 (Proband) | M/19 | Chinese/Irish | β IVS 2-654/βN | 8.6 | 68.8 | 20.8 | 4.2 | 9.5 | 3.8 | TI |
| Controls | ||||||||||
| Family C | ||||||||||
| I-1 | M/35 | English | β IVS 2-654/βN | 13.1 | 64.2 | 20.4 | 5.2 | 1.2 | 1.7 | TT |
| I-2 | F/34 | English | β IVS 2-654/βN | 11.6 | 68.0 | 21.0 | 5.6 | 1.9 | 1.8 | TT |
| II-1-151 | F/5 | English | β IVS 2-654/β IVS 2-654 | 7.9 | 87.0 | 29.0 | 2.2 | 98 | 3.5 | TM |
| MG | M/12 | English | β IVS 2-654/βN | 10.9 | 59.0 | 18.4 | 5.1 | 3.0 | ND | TT |
| ST | F/34 | Chinese | β IVS 2-654/βN | 11.3 | 61.9 | 19.1 | 4.4 | 1.5 | ND | TT |
| MY | F/24 | Chinese | β IVS 2-654/βN | 10.8 | 65.0 | 20.9 | 5.0 | 0.6 | ND | TT |
| RH | M/31 | Chinese | β IVS 2-654/βN | 13.2 | 66.0 | 21.2 | 5.0 | 1.5 | ND | TT |
| AH-151 | F/25 | Chinese | β IVS 2-654/I (Aγδβ)0 deletion | 9.0 | 85.7 | 30.8 | 1.8 | 3.3 | ND | TM |
Abbreviations: TI, thalassemia intermedia; TT, thalassemia trait; TM, thalassemia major; ND, not done.
Globin chain synthesis ratios in controls were: normal adults 0.8 to 1.2 (n = 100), β-thalassemia trait 1.8 to 2.3 (n = 100), thalassemia intermedia 3.0 to 5.5 (n = 50).
Hematologic profile in CII-1 was obtained before transfusion and splenectomy, while AH was transfused when blood was taken.