Non-sickle hemoglobinopathies identified by the California Newborn Screening Program, January 1998–June 2006. Adapted from Michlitsch J et al. Pediatr Blood Cancer. 2009;52:487.
| Diagnosis . | No. identified . | Incidence (per 100,000screened) . |
|---|---|---|
| *All five cases of Hb Bart’s hydrops fetalis were homozygous for the Southeast Asian (SEA) deletion mutation. | ||
| Alpha thalassemia syndromes | 502 | 11.1 |
| Hb H disease | 406 | 9.0 |
| Hb H with Hb E trait | 35 | 0.8 |
| Hb H with Hb EE | 16 | 0.4 |
| Hb H Constant Spring | 25 | 0.6 |
| Hb H with other variants | 8 | 0.2 |
| Hb H with SS | 7 | 0.2 |
| Hb Bart’s hydrops fetalis* | 5 | 0.1 |
| Beta thalassemia syndromes | 79 | 1.8 |
| β° thalassemia | 19 | 0.4 |
| Hb E/β° thalassemia | 31 | 0.7 |
| Hb C/β° thalassemia | 7 | 0.2 |
| Hb D/β° thalassemia | 5 | 0.1 |
| Hb C/β+ thalassemia | 14 | 0.3 |
| Hb E/β+ thalassemia | 3 | 0.1 |
| Other mutations | 862 | 19.1 |
| Hb EE | 514 | 11.4 |
| Hb CC | 41 | 0.9 |
| Hb C-HPFH | 3 | 0.1 |
| Heterozygous variants | 304 | 6.7 |
| Diagnosis . | No. identified . | Incidence (per 100,000screened) . |
|---|---|---|
| *All five cases of Hb Bart’s hydrops fetalis were homozygous for the Southeast Asian (SEA) deletion mutation. | ||
| Alpha thalassemia syndromes | 502 | 11.1 |
| Hb H disease | 406 | 9.0 |
| Hb H with Hb E trait | 35 | 0.8 |
| Hb H with Hb EE | 16 | 0.4 |
| Hb H Constant Spring | 25 | 0.6 |
| Hb H with other variants | 8 | 0.2 |
| Hb H with SS | 7 | 0.2 |
| Hb Bart’s hydrops fetalis* | 5 | 0.1 |
| Beta thalassemia syndromes | 79 | 1.8 |
| β° thalassemia | 19 | 0.4 |
| Hb E/β° thalassemia | 31 | 0.7 |
| Hb C/β° thalassemia | 7 | 0.2 |
| Hb D/β° thalassemia | 5 | 0.1 |
| Hb C/β+ thalassemia | 14 | 0.3 |
| Hb E/β+ thalassemia | 3 | 0.1 |
| Other mutations | 862 | 19.1 |
| Hb EE | 514 | 11.4 |
| Hb CC | 41 | 0.9 |
| Hb C-HPFH | 3 | 0.1 |
| Heterozygous variants | 304 | 6.7 |