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.

doi:10.3109/03630269.2015.1059850

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Article

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.

Hemoglobin - 1 Jan 2015

Farashi Samaneh, Garous Negin F, Ashki Mehri, Vakili Shadi, Zeinali Fatemeh, Imanian Hashem, Azarkeivan Azita, Giordano Piero C, Najmabadi Hossein

Abstract excerpt

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.

Topics

Adult
Aged
Blood Transfusion
DNA Mutational Analysis
Erythrocyte Indices
Female
Hemoglobin H
Homozygote
Humans
Iran
Male
Middle Aged

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Mutation

Poly A

Polyadenylation

RNA, Messenger

alpha-Globins

alpha-Thalassemia

Source

Open in PubMed

Identifiers

PMID: 26193977
DOI: 10.3109/03630269.2015.1059850

Genes

HBA2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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