Unknown
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| HbS NM_000518.5:c.20A>T | NA | NA | ||
| Hb D-Punjab NM_000518.5:c.364G>C | NA | NA |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 603903.G.3.1 | United Arab Emirates | Anemia | Unknown | Mutations identified in 29 patients with sickle beta thalassemia. All patients except the ones with IVS1-5G>A were beta-zero. | ||
| 603903.G.3.3 | United Arab Emirates | Anemia; Persistence of hemoglobin F | Unknown | 25 patients with sickle cell anemia. Patients were homozygous for Arabian-Indian haplotype 31. Nine patients had silent α-thal (-α3.7/αα) and 11 patients had α-thal trait (-α3.7/-α3.7) | ||
| 603903.G.3.4 | United Arab Emirates | Anemia; Persistence of hemoglobin F | Unknown | Six patients with sickle cell anemia. Patients were homozygous for Bantu haplotype 20. |