613985.40

Country

United Arab Emirates

HPO Terms

Anemia

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_000518.5:c.92+5G>C10.476
NM_000518.5:c.135del1<0.104

Remarks

Patient with β-thalassemia. Patient was beta-plus albeit severe.

References

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
613985.8United Arab EmiratesDecreased mean corpuscular volume; Hypochromia; Increased HbA2 hemoglobin; Persistence of hemoglobin FMale
613985.28United Arab EmiratesAnemiaUnknownPatient with β-thalassemia. Patient was beta-zero.
613985.29United Arab EmiratesAnemiaUnknownPatient with β-thalassemia. Patient was beta-zero.
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613985.33United Arab EmiratesAnemiaUnknownPatient with β-thalassemia. Patient was beta-zero.
613985.34United Arab EmiratesAnemiaUnknownPatient with β-thalassemia. Patient was beta-zero.
613985.35United Arab EmiratesAnemiaUnknownPatient with β-thalassemia. Patient was beta-zero.
613985.36United Arab EmiratesAnemiaUnknownPatient with β-thalassemia. Patient was beta-zero.
613985.37United Arab EmiratesAnemiaUnknownPatient with β-thalassemia. Patient was beta-zero.
613985.38United Arab EmiratesAnemiaUnknownPatient with β-thalassemia. Patient was beta-plus albeit severe.
613985.39United Arab EmiratesAnemiaUnknownPatient with β-thalassemia. Patient was beta-plus albeit severe.
613985.41United Arab EmiratesAnemiaUnknownPatient with β-thalassemia. Patient was beta-plus albeit severe.
613985.42United Arab EmiratesAnemiaUnknownPatient with β-thalassemia. Patient was beta-plus albeit severe.
613985.43United Arab EmiratesAnemiaUnknownPatient with β-thalassemia. Patient was beta-zero.
613985.44United Arab EmiratesAnemiaUnknownPatient with β-thalassemia. Patient was beta-zero.
613985.46United Arab EmiratesUnknown
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