603903.G.3.1

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Country

Arab; United Arab Emirates

HPO Terms

Anemia
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Sex

Unknown

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_000518.5:c.25_26delNANA
NM_000518.5:c.92+5G>CNANA
NM_000518.5:c.93-21_96delNANA
NM_000518.5:c.135delNANA
NM_000518.5:c.315+1G>ANANA
NM_000518.5:c.27dupNANA
HbS NM_000518.5:c.20A>TNANA
NM_000518.5:c.251delNANA
NM_000518.4:c.114G>ANANA
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Remarks

Mutations identified in 29 patients with sickle beta thalassemia. All patients except the ones with IVS1-5G>A were beta-zero.

References

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
603903.G.3.2Arab; United Arab EmiratesAnemiaUnknownPatients from three families with Hb SD. Clinical course was severe and patients were transfusion-dependent.
603903.G.3.3Arab; United Arab EmiratesAnemia; Persistence of hemoglobin FUnknown25 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)
603903.G.3.4Arab; United Arab EmiratesAnemia; Persistence of hemoglobin FUnknownSix patients with sickle cell anemia. Patients were homozygous for Bantu haplotype 20.
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© CAGS 2024. All rights reserved.