Effects of -3.7α Deletion and Sickle-Cell Trait on Ventilatory and Hemodynamic Responses to Maximum Exercise in Young Saudi Females.

INTRODUCTION: Hemoglobinopathies are common disorders in Saudi Arabia and have an impact on the general health of the affected individuals. The current study aimed to find out the effects of the presence of α 3.7 kb rightward deletion or sickle-cell trait (SCT) on ventilatory and hemodynamic parameters of maximum exercise testing in young Saudi women. METHODS: In a cross-sectional study, 75 randomly selected female students from different colleges were tested for VO2max using a COSMED system for maximum exercise testing. Blood parameters and globin genotyping were determined. RESULTS: Hemoglobin genetic studies revealed 28 of the students had 3.7 α-globin deletion only (-3.7α2/α1α2), five had SCT, and 42 had normal α-globin (α1α2/α1α2 and no HbS) and were considered the control group. Subjects with -3.7α2/α1α2 showed significantly lower VO2max and higher resting systolic blood pressure, while SCT carriers showed no difference in regard to ventilatory parameters, but had higher post-exercise systolic blood pressure than controls. CONCLUSION: It is concluded that individuals with 3.7 α-globin deletion might have lower fitness capacity, as demonstrated by lower VO2max, which might explain the general lower VO2max in the young women of this population. Furthermore, increments in resting systolic and posteexercise systolic blood pressure in 3.7 α-globin deletion and SCT, respectively, might indicate a future risk of cardiovascular diseases and require attention and extensive studies.

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.

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 bybeta-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 greater than C) and Cd 39 (C greater than 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.