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603903.G.1
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Subject Details
Country
Bahrain
HPO Terms
Anemia; Persistence of hemoglobin F
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Sex
Unknown
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NC_000016.10:g.173384_177187del
4
NA
NM_000518.5:c.-138C>A
2
NA
Sickle Cell Anemia
HbS NM_000518.5:c.20A>T
2
NA
Sickle Cell Anemia
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Remarks
Two patients from two unrelated families. Mutations identified in these patients contributed to manifestation of sickle cell disease phenotype.
References
Jassim and Al Arrayed, 2006
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