Marked regional variations in the prevalence of sickle cell disease and β-thalassemia in Saudi Arabia: Findings from the premarital screening and genetic counseling program

Abstract

Vast regional differences in hemoglobinopathies among adult Saudis are being reported that may help policy makers better allocate resources of available preventive programs.

The Most Common Genetic Disease in Hail and Diseases Related to Consanguinity.

“…For examples, prevalence of SCD washighest in the Eastern region with 13.41% per 1000, followed by Southern and Western regions with 5.56% and 2.85%, respectively and lowest in Central and Northern regions with 1.37% and 1.35%, respectively [10].In more, the regional distribution of SCD showed Eastern region dominance with a prevalence of 1.45%, followed by the Southern region with a prevalence of 0.24%, Western region 0.12%, and central region with 0.06%. No cases were found in the Northern regions [3].…”

The Development of Genetic Counseling Services and Training Program in Saudi Arabia

“…This had partially led to the interruption of the program due to the lack of trained and experienced genetic counseling supervisors. The program then was continued in 2010 and accepted two Saudi nurses who were sent by a local hospital in the Eastern province to train in genetic counseling due to high incidence of genetic diseases in that region (Memish et al 2011). The two students were supervised by the first program graduates and an ABGC (American Board of Genetic Counseling) certified genetic counselor recruited to work in our institute.…”

“…At designated premarital consultation centers, blood samples are obtained from couples and tested by complete blood count (CBC) and hemoglobin electrophoresis to determine their carrier status. Couples who are at risk of having affected children are counseled regarding the risk, however whether to go ahead with marriage or not remains their choice (Memish et al 2011). Testing is electronically linked with marital courts.…”

“…The carrier frequency of sickle cell anemia in Eastern province is estimated to be as high as 12.4 % (124.0 per 1,000). On the other hand, the carrier frequency of β-thalassemia is estimated to be as high as 5.8 % in the same area (Memish et al 2011).…”

The Construction of Sickle Cell Disorder in Saudi Arabia: The Invisible Disease

“…The consanguinity rate is relatively high in Saudi Arabia and has contributed to an increased prevalence of inherited disorders among the Saudi population, with the most common genetic disorders being haemoglobinopathies of which SCD is one (Alkuraya & Kilani, 2001 The above studies employed various methodologies and accessed different populations (Alhamdan et al, 2007;Al Jaouni, 2010;Al-Qurashi, El-Mouzan, AlHerbish, Al-Salloum, & Al-Omar, 2008;El-Hazmi et al, 1996;El-Tayeb et al, 2008;Memish, Owaidah, & Saeedi, 2011;Nasserullah et al, 2003). The most often cited and broad-based study was published in 1996 by El-Hazmi et al and concluded that the prevalence of SCD was generally high in Saudi Arabia.…”