The β-globin promoter -71 C>T mutation is a β+ thalassemic allele

Shoaib Al Zadjali, Yasser Wali, Fatma Al Lawatiya, David Gravell, Salam Alkindi, Kareema Al Falahi, Rajagopal Krishnamoorthy*, Shahina Daar

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

9 Citations (Scopus)

Abstract

A novel β-globin gene promoter (-71 C>T) nucleotide change was recently posted to the HbVar database (ID 2701) without precision on phenotype and ethnicity. We found the same change in compound heterozygosity with Hb S [β6(A3)Glu>Val] in an Omani family with almost equal expression of Hb A and Hb S. This suggested that the -71 C to T mutation may be a mild β-thalassemic allele. Subsequent search found three other independent cases with the same atypical Hb A:Hb S ratio, further confirming the mild thalassemic feature of this mutation. In addition, molecular screening of a set of subjects (with only Hb A) with borderline Hb A 2 or MCV values revealed the presence of -71 C>T change in heterozygous state, altogether assigning the mutation as a mild β + thalassemic allele. In a region such as Oman, where several genetic conditions of the red blood cell coexist (α- and β-thalassemia, Hb S, Hb D, Hb E) in significant frequencies, it is crucial to decipher the molecular basis of these atypical forms of β + thalassemias, especially in a genetic counseling setting.

Original languageEnglish
Pages (from-to)457-460
Number of pages4
JournalEuropean Journal of Haematology
Volume87
Issue number5
DOIs
Publication statusPublished - Nov 2011

Keywords

  • β+ Thalassemia
  • -71 promoter mutation
  • Hb S
  • Oman

ASJC Scopus subject areas

  • Hematology

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