613985.10.3

Country

Iraq

HPO Terms

Anemia; Decreased mean corpuscular volume
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Sex

Male

Family History

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_000518.5:c.315+1G>A1NA
Hb Iraq-Halabja NM_000518.5:c.32C>T1NA

Remarks

Brother of proband (patient #5825 in the publication); patient also has α-thalassemia type 2, 3.7 kb deletion.

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
613985.10.1IraqAnemia; Decreased mean corpuscular volumeMaleYesProband (patient #3444 in the publication); patient also has α-globin gene triplication anti-3.7 kb mutation.
613985.10.2IraqHemolytic anemia; Persistence of hemoglobin FMaleYesSon of Proband (patient #5829 in the publication).
613985.10.4IraqAnemia; Persistence of hemoglobin FFemaleYesNiece of proband (patient #5937 in the publication); patient also has α-thalassemia type 2, 3.7 kb deletion.
613985.10.5IraqMaleYesNephew of proband (patient #5939 in the publication), hematological data not available - mutational analysis done on cord blood.
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