TABLE I.
Hemoglobin Genotypes Confirmed by the HRL (January 1998–June 2006)
| Diagnosis/genotype | No. of identified | Incidence (per 100,000 infants screened) |
|---|---|---|
| Sickle cell disease | 688 | 15.2 |
| Hb SS | 381 | 8.5 |
| Hb SC | 197 | 4.4 |
| Hb Sβ+ thal | 62 | 1.4 |
| Hb Sβ∘ thal | 35 | 0.8 |
| Hb S-HPFH | 11 | 0.2 |
| Hb S/Hb Lepore | 1 | 0.02 |
| Hb S/Hb O-Arab | 1 | 0.02 |
| 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 |
| Hydrops fetalisa | 5 | 0.1 |
| Beta thalassemia syndromes | 79 | 1.8 |
| Hb β∘ | 19 | 0.4 |
| Hb Eβ∘ | 31 | 0.7 |
| Hb Cβ∘b | 7 | 0.2 |
| Hb Dβ∘b | 5 | 0.1 |
| Hb Cβ+b | 14 | 0.3 |
| Hb Eβ+b | 3 | 0.1 |
| Other mutations | 862 | 19.1 |
| Hb EE | 514 | 11.4 |
| Hb CC | 41 | 0.9 |
| Hb C-HPFH | 3 | 0.1 |
| Heterozygote variants | 304 | 6.7 |
a
All five cases of hydrops fetalis were homozygous for Southeast Asian (SEA) deletion;
b
Associated with milder disease phenotypes.