title: Homozygosity for the AATAAA > AATA- - Polyadenylation Site Mutation on the α2-Globin Gene Causing Transfusion-Dependent Hb H Disease in an Iranian Patient: A Case Report.
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.
authors.affiliation: a Kariminejad-Najmabadi Pathology & Genetics Center , Tehran , Iran.
authors.forename: Samaneh
authors.initials: S
authors.lastname: Farashi
authors.forename: Negin F
authors.initials: NF
authors.lastname: Garous
authors.forename: Mehri
authors.initials: M
authors.lastname: Ashki
authors.forename: Shadi
authors.initials: S
authors.lastname: Vakili
authors.forename: Fatemeh
authors.initials: F
authors.lastname: Zeinali
authors.forename: Hashem
authors.initials: H
authors.lastname: Imanian
authors.forename: Azita
authors.initials: A
authors.lastname: Azarkeivan
authors.forename: Piero C
authors.initials: PC
authors.lastname: Giordano
authors.forename: Hossein
authors.initials: H
authors.lastname: Najmabadi
mesh_terms: D000328:Adult; D000368:Aged; D001803:Blood Transfusion; D004252:DNA Mutational Analysis; D004909:Erythrocyte Indices; D005260:Female; D006447:Hemoglobin H / Q000235:genetics; D006720:Homozygote; D006801:Humans; D007492:Iran; D008297:Male; D008875:Middle Aged; D009154:Mutation; D011061:Poly A; D026723:Polyadenylation / Q000235:genetics*; D012333:RNA, Messenger / Q000737:chemistry / Q000235:genetics*; D055542:alpha-Globins / Q000235:genetics*; D017085:alpha-Thalassemia / Q000175:diagnosis / Q000235:genetics* / Q000628:therapy
chemical_list: D012333:RNA, Messenger; D055542:alpha-Globins; D011061:Poly A; D006447:Hemoglobin H
keywords: Hb H disease; polyadenylation (polyA) site mutations; α-Thalassemia (α-thal)