141749.G.2.2

Country

Algeria

HPO Terms

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

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Sex

Female

Family History

Yes

Parental Consanguinity

Yes

Subject Variants

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_000518.5:c.118C>T	4		Beta-Thalassemia
NM_000184.2:c.-167C>A	4		Fetal Hemoglobin Quantitative Trait Locus 1

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Remarks

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.

References

Zertal-Zidani et al. 1999

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.2.3	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.