Abstract
We describe a case of Hb H disease associated with homozygosity for a two nucleotide deletion in the polyadenylation signal of the α2-globin gene (HBA2: c.*93_*94delAA). The patient, a 27-year-old son of a consanguineous couple, needs regular blood transfusions every 6 months.
Keywords:
Hb H disease; polyadenylation (polyA) site mutations; α-Thalassemia (α-thal).
MeSH terms
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Adult
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Aged
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Blood Transfusion
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DNA Mutational Analysis
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Erythrocyte Indices
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Female
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Hemoglobin H / genetics
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Homozygote*
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Humans
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Iran
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Male
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Middle Aged
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Mutation*
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Poly A*
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Polyadenylation / genetics*
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RNA, Messenger / chemistry
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RNA, Messenger / genetics*
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alpha-Globins / genetics*
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alpha-Thalassemia / diagnosis
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alpha-Thalassemia / genetics*
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alpha-Thalassemia / therapy
Substances
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RNA, Messenger
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alpha-Globins
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Poly A
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Hemoglobin H