Hemoglobin, 2013; 37(1): 65–73 Copyright © Informa Healthcare USA, Inc. ISSN: 0363-0269 print/1532-432X online DOI: 10.3109/03630269.2012.753510 ORIGINAL ARTICLE SPECTRUM OF α-THALASSEMIA MUTATIONS IN TRANSFUSION- DEPENDENT β-THALASSEMIA PATIENTS FROM THE EASTERN PROVINCE OF SAUDI ARABIA Mohammed Shakil Akhtar, 1 Fuad Qaw, 1 J. Francis Borgio, 2 Waleed Albuali, 3 Ahmed Suliman, 3 Zaki Nasserullah, 3 Sana Al-Jarrash, 4 and Amein Al-Ali 2,3 1 Department of Biochemistry, University of Dammam, Dammam, Saudi Arabia 2 Prince Mohammed Centre for Research & Consultation Studies, University of Dammam, Dammam, Saudi Arabia 3 Al-Omran Scientific Chair for Hematological Diseases in Al-Ahsa, King Faisal University, Al-Ahsa & King Fahd Hospital, Al-Ahsa, Saudi Arabia 4 Dammam Maternity and Child Hospital, Dammam, Saudi Arabia Û Both α- and β-thalassemia (α- and β-thal) are highly prevalent in the population of the Al-Qatif and Al-Ahsa regions in the Eastern Province of Saudi Arabia. This study provides a more precise picture of the α-thal mutations prevalent in 104 transfusion-dependent β-thal patients in the Eastern Province. Detection of α-thal mutations was carried out using the α-globin StripAssay kit. A total of 12 α-thal mutations (21 genotypes) were identified in 33.7% of the chromosomes (46 patients). The heterozygous and homozygous –α 3.7 (α þ ) deletion mutations were the most prevalent in the β-thal patients (21.7%). We identified three α 0 deletions [–– MED , –– FIL and –(α)20.5] that have not been previously reported for the population of Saudi Arabia. The seven point mutations identified in the β- thal patients were: codon 14 [TGG>TAG(α1)], codon 59 [GGC>GAC(α1)] (Hb Adana), polyadenylation signal site (polyA1) [AATAAA>AATAAG (α2)], codon 142 [TAA>TCA(α2)] (Hb Koya Dora), codon 59 [GGC>GAC(α2)] (Hb Adana), initiation codon [ATG>ACG(α2)] and the ααα anti 3.7 gene triplication. The Hb Koya Dora mutation occurred at the highest frequency (15.38%). Comparison of the clinical phenotype of β-thal patients, with and without an α-thal mutation, showed that patients with β-thal alone had a significantly elevated level of alanine transaminase (ALT) (mean 72.5 IU/L) and aspartate transaminase (AST) (mean 71.8 IU/L) (p <0.005). In addition, the β-thal patients without an α-thal mutation had a higher percentage of osteoporosis (16.6%), fractures (12.5%), and splenectomies (58.3%). This confirms previous data Received 24 June 2012; Accepted 20 September 2012. Address correspondence to Dr. Mohammed Shakil Akhtar, Department of Biochemistry, University of Dammam, P.O. Box 1982, Dammam 31441, Saudi Arabia; Tel.: þ966-3-3331073; Fax: þ966-3-333860; E-mail: makhtar@ud.edu.sa; mdshakilakhtar@yahoo.co.in 65