603903.G.3.3

Country

Arab; United Arab Emirates

HPO Terms

Anemia; Persistence of hemoglobin F

Sex

Unknown

Subject Variants

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NC_000016.10:g.173384_177187del	31	NA
HbS NM_000518.5:c.20A>T	50	NA	Sickle Cell Anemia

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Remarks

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)

References

El-Kalla and Baysal, 1998

Related Subjects

Subject Id	Country	HPO Terms	Sex	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.3.4	Arab; United Arab Emirates	Anemia; Persistence of hemoglobin F	Unknown	Six patients with sickle cell anemia. Patients were homozygous for Bantu haplotype 20.

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