Literature DB >> 26193977

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.

Samaneh Farashi1, Negin F Garous, Mehri Ashki, Shadi Vakili, Fatemeh Zeinali, Hashem Imanian, Azita Azarkeivan, Piero C Giordano, Hossein Najmabadi.   

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.

Entities:  

Keywords:  Hb H disease; polyadenylation (polyA) site mutations; α-Thalassemia (α-thal)

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Year:  2015        PMID： 26193977     DOI： 10.3109/03630269.2015.1059850

Source DB:  PubMed          Journal:  Hemoglobin        ISSN： 0363-0269            Impact factor:   0.849


  3 in total

1.  Iranian patients with hemoglobin H disease: genotype-phenotype correlation.

Authors:  Mostafa Paridar; Ebrahim Azizi; Bijan Keikhaei; Vahideh Takhviji; Iman Baluchi; Abbas Khosravi
Journal:  Mol Biol Rep       Date:  2019-07-04       Impact factor: 2.316

2.  CRISPR/Cas9-mediated mutation of tyrosinase (Tyr) 3' UTR induce graying in rabbit.

Authors:  Yuning Song; Yuxin Xu; Jichao Deng; Mao Chen; Yi Lu; Yong Wang; Haobin Yao; Lina Zhou; Zhiquan Liu; Liangxue Lai; Zhanjun Li
Journal:  Sci Rep       Date:  2017-05-08       Impact factor: 4.379

3.  Molecular Basis of α-Thalassemia in Iran

Authors:  Atefeh Valaei; Morteza Karimipoor; Alireza Kordafshari; Sirous Zeinali
Journal:  Iran Biomed J       Date:  2018-01-01
  3 in total

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