613985.G.22.13

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Country

United Arab Emirates

HPO Terms

Anemia
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Sex

Unknown

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_000518.5:c.92+5G>C20.476
NM_000518.5:c.*110_*114del2<0.104
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Remarks

2 patients with β-thalassemia. Both patients were beta-plus albeit severe.

References

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
613985.G.22.1United Arab EmiratesAnemiaUnknownHomozygous β-thalassemia mutations reported in 158 Emirati patients. All patients except the ones with IVS1-5G>A were beta-zero. Patients with IVS1-5G>A mutation were beta-plus albeit severe.
613985.G.22.2United Arab EmiratesAnemiaUnknown10 patients with β-thalassemia. All patients were beta-plus albeit severe.
613985.G.22.3United Arab EmiratesAnemiaUnknown9 patients with β-thalassemia. All patients were beta-plus albeit severe.
613985.G.22.4United Arab EmiratesAnemiaUnknown9 patients with β-thalassemia. All patients were beta-plus albeit severe.
613985.G.22.5United Arab EmiratesAnemiaUnknown4 patients with β-thalassemia. All patients were beta-zero.
613985.G.22.6United Arab EmiratesAnemiaUnknown3 patients with β-thalassemia. All patients were beta-zero.
613985.G.22.7United Arab EmiratesAnemiaUnknown3 patients with β-thalassemia. All patients were beta-plus albeit severe.
613985.G.22.8United Arab EmiratesAnemiaUnknown3 patients with β-thalassemia. All patients were beta-plus albeit severe.
613985.G.22.9United Arab EmiratesAnemiaUnknown2 patients with β-thalassemia. Both patients were beta-plus albeit severe.
613985.G.22.10United Arab EmiratesAnemiaUnknown2 patients with β-thalassemia. Both patients were beta-zero.
613985.G.22.11United Arab EmiratesAnemiaUnknown2 patients with β-thalassemia. Both patients were beta-zero.
613985.G.22.12United Arab EmiratesAnemiaUnknown2 patients with β-thalassemia. Both patients were beta-plus albeit severe.
613985.G.22.14United Arab EmiratesAnemiaUnknown2 patients with β-thalassemia. Both patients were beta-plus albeit severe.
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.