RT Journal Article
SR Electronic
T1 A comprehensive review of the prevalence of beta globin gene variations and the co-inheritance of related gene variants in Saudi Arabians with beta-thalassemia
JF Saudi Medical Journal
JO Saudi Med J
FD Prince Sultan Military Medical City
SP 329
OP 335
DO 10.15537/smj.2018.4.21360
VO 39
IS 4
A1 Alaithan, Mousa A.
A1 AbdulAzeez, Sayed
A1 Borgio, J. Francis
YR 2018
UL http://smj.org.sa/content/39/4/329.abstract
AB Beta-thalassemia is a genetic disorder that is caused by variations in the beta-hemoglobin (HBB) gene. Saudi Arabia is among the countries most affected by beta-thalassemia, and this is particularly problematic in the Eastern regions. This review article is an attempt to compile all the reported mutations to facilitate further national-level studies to prepare a Saudi repository of HBB gene variations. In Saudi Arabians, IVSI-5 (G>C) and Cd 39 (C>T) are the most prevalent HBB gene variations out of 42 variations. The coinheritance of HBB gene variations with ATRX, HBA1, HBA2, HBA12, AHSP, and KLF1 gene variations were observed to be common in the Saudi population. National surveys on the molecular nature of hemoglobinopathies should be set up through collaborations between research centers from various regions to create a well-documented molecular data bank. This data bank can be used to develop a premarital screening program and lead to the best treatment and prevention strategies for beta-thalassemia.