613985.G.22.5

Country

United Arab Emirates

HPO Terms

Anemia

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_000518.5:c.93-21_96del40.062
NM_000518.5:c.315+1G>A40.029

Remarks

4 patients with β-thalassemia. All patients were beta-zero.

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.22.6United 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.22.13United 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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