Literature DB >> 23797957

First reported case of compound heterozygosity for HbA2-Yialousa (HBD: c.82 G>C) and HbA2-Wrens (HBD: c.295 G>A) in Oman.

Shoaib Al Zadjali1, Wafa Bashir, David Gravell, Arwa Z Al Riyami, Yasser Wali, Shahina Daar.   

Abstract

We report the presence of two different dglobin gene mutations causing d?-thalassemia in association with homozygous (-a3.7/-a3.7) genotype for the first time in an Omani child with a low hemoglobin A2 (HbA2) of 0.8 %. Direct nucleotide sequencing revealed compound heterozygote mutations in the patient’s d-globin genes: HbA2-Yialousa (HBD: c.82G[C) and HbA2- Wrens (HBD: c.295G[A). In Oman, where a and b-thalassemia and HbS are prevalent, an awareness of the presence of different d-globin gene mutations is important as complex interactions between these hemoglobinopathies can lead to the misdiagnosis of b-thalassemia carriers.

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Year:  2013        PMID: 23797957     DOI: 10.1007/s12185-013-1388-7

Source DB:  PubMed          Journal:  Int J Hematol        ISSN: 0925-5710            Impact factor:   2.490


  9 in total

1.  Rapid detection of alpha-thalassaemia deletions and alpha-globin gene triplication by multiplex polymerase chain reactions.

Authors:  Y T Liu; J M Old; K Miles; C A Fisher; D J Weatherall; J B Clegg
Journal:  Br J Haematol       Date:  2000-02       Impact factor: 6.998

2.  A study of consanguinity in the Sultanate of Oman.

Authors:  A Rajab; M A Patton
Journal:  Ann Hum Biol       Date:  2000 May-Jun       Impact factor: 1.533

3.  Observations on the minor basic hemoglobin component in the blood of normal individuals and patients with thalassemia.

Authors:  H G KUNKEL; R CEPPELLINI; U MULLER-EBERHARD; J WOLF
Journal:  J Clin Invest       Date:  1957-11       Impact factor: 14.808

4.  Delta-thalassemia in Cyprus.

Authors:  Eleni Pavlou; Marios Phylactides; Andriani Kyrri; Eleni Kalogerou; Christiana Makariou; Ioannis Georgiou; Marina Kleanthous
Journal:  Hemoglobin       Date:  2006       Impact factor: 0.849

5.  Mutational spectrum of delta-globin gene in the Portuguese population.

Authors:  Ana Morgado; Isabel Picanço; Susana Gomes; Armandina Miranda; Margarida Coucelo; Filomena Seuanes; Maria Teresa Seixas; Luísa Romão; Paula Faustino
Journal:  Eur J Haematol       Date:  2007-10-04       Impact factor: 2.997

6.  Significance of borderline hemoglobin A2 values in an Italian population with a high prevalence of beta-thalassemia.

Authors:  Antonino Giambona; Cristina Passarello; Margherita Vinciguerra; Rita Li Muli; Pietro Teresi; Maurizio Anzà; Gaetano Ruggeri; Disma Renda; Aurelio Maggio
Journal:  Haematologica       Date:  2008-07-04       Impact factor: 9.941

7.  Forecasting hemoglobinopathy burden through neonatal screening in Omani neonates.

Authors:  Salam Alkindi; Shoaib Al Zadjali; Ali Al Madhani; Shahina Daar; Hamood Al Haddabi; Qamariya Al Abri; David Gravell; Tsouria Berbar; Sahaya Pravin; Anil Pathare; Rajagopal Krishnamoorthy
Journal:  Hemoglobin       Date:  2010-01       Impact factor: 0.849

8.  Hb A2' (Hb B2) in the Omani population and diagnostic significance.

Authors:  Shahina Daar; Shoaib Al Zadjali; David Gravell; Hamood Al Haddabi; Muna Al Riyami; Abeer Al Belushi; Tsouria Berbar; Rajagopal Krishnamoorthy
Journal:  Hemoglobin       Date:  2011       Impact factor: 0.849

9.  Hb A2-Wrens or alpha 2 delta 2 98(FG5) Val----Met, an unstable delta chain variant identified by sequence analysis of amplified DNA.

Authors:  J F Codrington; F Kutlar; H F Harris; J B Wilson; T A Stoming; T H Huisman
Journal:  Biochim Biophys Acta       Date:  1989-09-21
  9 in total

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