PT  - JOURNAL ARTICLE
AU  - Alaithan, Mousa A.
AU  - AbdulAzeez, Sayed
AU  - Borgio, J. Francis
TI  - 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
AID  - 10.15537/smj.2018.4.21360
DP  - 2018 Apr 01
TA  - Saudi Medical Journal
PG  - 329--335
VI  - 39
IP  - 4
4099  - http://smj.org.sa/content/39/4/329.short
4100  - http://smj.org.sa/content/39/4/329.full
SO  - Saudi Med J2018 Apr 01; 39
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.