613978.1.G.4

Country

United Arab Emirates

HPO Terms

HbH hemoglobin; Decreased mean corpuscular volume; Decreased mean corpuscular hemoglobin concentration

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NC_000016.10:g.173384_177187del9
NM_000517.6:c.*94A>G9

Remarks

9 Emirati patients

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
613978.1.G.1United Arab EmiratesHbH hemoglobin; Decreased mean corpuscular volume; Decreased mean corpuscular hemoglobin concentrationMale3 Omani patients
613978.1.G.2United Arab EmiratesHbH hemoglobin; Decreased mean corpuscular volume; Decreased mean corpuscular hemoglobin concentrationMale3 Emirati patients
613978.1.G.3United Arab EmiratesHbH hemoglobin; Decreased mean corpuscular volume; Decreased mean corpuscular hemoglobin concentrationMale2 Emirati brothers
613978.1.G.5United Arab EmiratesHbH hemoglobin; Decreased mean corpuscular volume; Decreased mean corpuscular hemoglobin concentrationMale3 Emirati patients
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