RT Journal Article
SR Electronic
T1 New variants in beta globin gene among the Palestinian refugees with sickle cell disease in Lebanon
JF Saudi Medical Journal
JO Saudi Med J
FD Prince Sultan Military Medical City
SP 1253
OP 1258
DO 10.15537/smj.2018.12.23113
VO 39
IS 12
A1 Moussa, Esraa Y.
A1 Yassine, Noura M.
A1 Borjac, Jamilah M.
YR 2018
UL http://smj.org.sa/content/39/12/1253.abstract
AB Objectives: 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.