Unknown
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| HbS NM_000518.5:c.20A>T | 12 | NA |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 603903.G.3.1 | Arab; 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.3.2 | Arab; United Arab Emirates | Anemia | Unknown | Patients from three families with Hb SD. Clinical course was severe and patients were transfusion-dependent. | ||
| 603903.G.3.3 | Arab; 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) |