603903.G.2.2

Country

United Arab Emirates

HPO Terms

Anemia

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_000518.5:c.92+5G>C170.476
HbS NM_000518.5:c.20A>T170.219

Remarks

17 patients with sickle beta thalassemia. All patients were beta-plus albeit severe.

References

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
603903.G.2.1United Arab EmiratesAnemiaUnknown52 patients with sickle cell anemia.
603903.G.2.3United Arab EmiratesAnemiaUnknown4 patients with sickle beta thalassemia. All patients were beta-zero.
603903.G.2.4United Arab EmiratesAnemiaUnknown3 patients with sickle cell disease. All patients were beta-zero.
603903.G.2.5United Arab EmiratesAnemiaUnknown2 patients with sickle beta thalassemia. Both patients were beta-zero.
603903.G.2.6United Arab EmiratesAnemiaUnknown2 patients with sickle beta thalassemia. Both patients were beta-zero.
Back to search Result
© CAGS 2024. All rights reserved.