title: Spectrum of β-thalassemia mutations in the eastern province of Saudi Arabia.
abstract: β-Thalassemias comprise a group of heterogeneous hemoglobin (Hb) disorders characterized by the absence or reduced synthesis of the β-globin chain with a variable clinical presentation. The Al-Qatif and Al-Ahsa oases in the Eastern Province of Saudi Arabia are regions known for the high prevalence of these disorders. This study was conducted to provide a more precise picture of the β-thalassemia (β-thal) mutations prevalent in these regions and to estimate their frequencies. One hundred and 96 subjects with transfusion-dependent β-thalassemia (β-thal) disease were included in this study. A total of 14 β-thal mutations were identified with five mutations accounting for more than 80% of the total β-thal mutations identified. Of the 196 patients, 164 were homozygous for a β-thal mutation, while 32 were compound heterozygotes. We report here the novel identification of two mutations, namely, the Tunisian splice site IVS-I-130 (G→C) and the Mediterranean cryptic splice site IVS-I-110 (G→A), which have not been previously reported in the population of the Eastern Province. However, 15 patients (46.9%) with compound heterozygosities carried one of the β-thal mutations and the sickle cell mutation [Hb S or β6(A3)Glu→Val]. These patients were less frequently transfused than the patients who were homozygous for the β-thal mutations and presented with fewer complications. A more comprehensive overview of the genetic heterogeneity of the β-thal mutations in the Eastern Province of Saudi Arabia is presented in this article. This study will contribute to the establishment of an effective prevention program, including premarital screening.
authors.affiliation: Department of Internal Medicine, College of Medicine, King Faisal University, Al-Ahsa, Saudi Arabia.
authors.forename: Ali
authors.initials: A
authors.lastname: Al-Sultan
authors.forename: Supriya
authors.initials: S
authors.lastname: Phanasgaonkar
authors.forename: Ahmed
authors.initials: A
authors.lastname: Suliman
authors.forename: Muneer
authors.initials: M
authors.lastname: Al-Baqushi
authors.forename: Zaki
authors.initials: Z
authors.lastname: Nasrullah
authors.forename: Amein
authors.initials: A
authors.lastname: Al-Ali
mesh_terms: D000293:Adolescent; D000483:Alleles; D002648:Child; D002675:Child, Preschool; D005260:Female; D005787:Gene Frequency; D005838:Genotype; D006451:Hemoglobin, Sickle / Q000235:genetics; D006801:Humans; D008297:Male; D009154:Mutation / Q000235:genetics*; D012529:Saudi Arabia; D017086:beta-Thalassemia / Q000235:genetics*
chemical_list: D006451:Hemoglobin, Sickle