141749.G.2.3

Algeria

Increased HbA2 hemoglobin; Decreased mean corpuscular volume; Persistence of hemoglobin F

Yes

Yes

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_000518.5:c.118C>T	3		Beta-Thalassemia

2 males and 1 female belonging to the same Algerian family as 141749.G.2.1.

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
141749.G.2.1	Algeria	Persistence of hemoglobin F; Non-anemic		Yes	Yes	10 males and 2 females from a large Algerian family
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.