Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_000184.2:c.-167C>A | 12 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 141749.G.2.2 | Algeria | Persistence of hemoglobin F; Increased HbA2 hemoglobin; Decreased mean corpuscular volume | Female | Yes | Yes | 4 females belonging to the same Algerian family as 141749.G.2.1. HbF levels were seven times higher when an HBB variant was present in trans to the HBG2 variant. |
| 141749.G.2.3 | Algeria | Increased HbA2 hemoglobin; Decreased mean corpuscular volume; Persistence of hemoglobin F | Yes | Yes | 2 males and 1 female belonging to the same Algerian family as 141749.G.2.1. |