New variants in beta globin gene among the Palestinian refugees with sickle cell disease in Lebanon

Saudi Med J. 2018 Dec;39(12):1253-1258. doi: 10.15537/smj.2018.12.23113.

Abstract

To examine the association between beta-globin sequence variations and phenotypes of sickle-cell disease (SCD) complications among Palestinian refugees in Lebanon correlating them with chromatographic readings and co-inheritance with β-thalassemia traits. Methods: This cross-sectional study included 47 Palestinian refugees aged 4 to 54 living in different regions in Lebanon during the year 2015. Participant filled a well-designed questionnaire. Deoxyribonucleic acid (DNA) was purified from the blood collected from all participants, followed by polymerase chain reaction (PCR) amplification of exon 1, exon 2, and IVS 1 of hemoglobin beta. Multiple sequence alignment for comparative analysis was performed against normal hemoglobin sequences. Results: In addition to well-known SCD mutations, rare beta globin variations were identified. Participants with these variations have phenotypic thalassemia despite the absence of known β-thalassemia mutations. Conclusion: The genetic variation seen among our study population is correlated with reduced beta globin transcription, and phenotypic β-thalassemia complications among SCD patients under study.

MeSH terms

  • Adolescent
  • Adult
  • Anemia, Sickle Cell / genetics*
  • Anemia, Sickle Cell / metabolism
  • Arabs / genetics*
  • Child
  • Child, Preschool
  • Cross-Sectional Studies
  • Female
  • Genetic Variation
  • Genotype
  • Hemoglobin, Sickle / genetics
  • Hemoglobin, Sickle / metabolism
  • Hemoglobins / genetics
  • Hemoglobins / metabolism
  • Humans
  • Lebanon
  • Male
  • Middle Aged
  • Phenotype
  • Polymerase Chain Reaction
  • Refugees*
  • Sequence Analysis, DNA
  • Transcription, Genetic / genetics
  • Young Adult
  • beta-Globins / genetics*
  • beta-Thalassemia / genetics*
  • beta-Thalassemia / metabolism

Substances

  • Hemoglobin, Sickle
  • Hemoglobins
  • beta-Globins
  • hemoglobin AS