Spectrum of α-Thalassemia Mutations in Transfusion-Dependent β-Thalassemia Patients from the Eastern Province of Saudi Arabia

REFERENCES

• Harteveld CL, Higgs DR. α-Thalassemia. Orphanet J Rare Dis. 2010;5:13.
   PubMedGoogle Scholar
• Hardison RC, Chui DH, Giardine B, et al. HbVar: a relational database of human hemoglobin variants and thalassemia mutations at the globin gene server. Hum Mutat. 2002;19(3):225-233 (http://globin.csu.pse.edu).
   Google Scholar
• El-Hazmi MA. α-Thalassemia in Saudi Arabia: deletion pattern. Hum Genet. 1987;76(2):196–198.
   PubMedGoogle Scholar
• Al-Awamy BH. Thalassemia syndromes in Saudi Arabia: meta-analysis of local studies. Saudi Med J. 2000;21(1):8–17.
   PubMed Web of Science ®Google Scholar
• Nasserullah Z, Al Jame A, Abu Srair H, . Neonatal screening for sickle cell disease, glucose-6-phosphate dehydrogenises deficiency and α thalassemia in Qatif and Al Ahsa. Ann Saudi Med. 1998; 18(4):289–292.
   PubMed Web of Science ®Google Scholar
• Nasserullah Z, Alshammari A, Al Abbas M, . Regional experience with newborn screening for sickle cell disease, other hemoglobinopathies and G6PD deficiency. Ann Saudi Med. 2003;23(6):354–357.
   PubMed Web of Science ®Google Scholar
• Hellani A, Fadel E, El-Sadadi S, . Molecular spectrum of α-thalassemia mutations in microcytic hypochromic anemia patients from Saudi Arabia. Genet Test Mol Biomarkers. 2009;13(2):219–221.
   PubMed Web of Science ®Google Scholar
• Al-Awamy BH, Niazi GA, Naeem MA, Wilson JB, Huisman THJ. Hemoglobin Handsworth or α218(A16)Gly→Argβ2 in a Saudi newborn. Hemoglobin. 1985;9(2):183–186.
   PubMed Web of Science ®Google Scholar
• Rund D, Filon D, Oppenheim A, Abramov A. Silent carrier β-thalassaemia due to a severe β-globin mutation interacting with other genetic elements. Eur J Pediatr. 1993;152(7):574–576.
   PubMedGoogle Scholar
• Oron V, Filon D, Oppenheim A, Rund D. Severe thalassemia intermedia caused by interaction of homozygosity for α-globin gene triplication with heterozygosity for β0-thalassaemia. Br J Haematol. 1994;86(2):377–379.
   PubMedGoogle Scholar
• Muncie HL Jr, Campbell JS. α And β thalassemia. Am Fam Physician. 2009;80(4):339–344.
   PubMed Web of Science ®Google Scholar
• Al-Sultan A, Phanasgoankar S, Suliman A, Al-Baqushi M, Nasrullah Z, Al-Ali A. Spectrum of β-thalassemia mutations in the Eastern Province of Saudi Arabia. Hemoglobin. 2011;35(2):125–134.
   PubMed Web of Science ®Google Scholar
• Chong SS, Boehme CD, Higgs DR, Cutting GR. Single-tube multiplex-PCR screen for common deletional determinants of α-thalassemia. Blood. 2000;95(1):360–362.
   PubMed Web of Science ®Google Scholar
• Qadri MI, Islam SA. Hemoglobin H disease in the eastern region of Saudi Arabia. Saudi Med J. 2000; 21(7):666–671.
   PubMedGoogle Scholar
• Kanavakis E, Wainscot JS, Wood WG, . The interaction of α thalassaemia and heterozygous β thalassaemia. Br J Haematol. 1982;52(2):465–473.
   PubMedGoogle Scholar
• Hassan SM, Nishat H, Al-Lawatiya FJ, . Extended molecular spectrum of β- and α-thalassemia in Oman. Hemoglobin. 2010;34(2):127–134.
   PubMed Web of Science ®Google Scholar
• Tan JAMA, Lee PC, Wee YC, . High prevalence of α- and β-thalassemia in Kadazandusuns in East Malaysia: challenges in providing effective health care for an indigenous group. J Biomed Biotechnol. 2010; 2010. doi:pii: 706872. Epub 2010 Sep 5.
   Google Scholar
• Lau YL, Chan L, Chan YYA, . Prevalence and genotypes of α and β thalassemia carriers in Hong Kong – implementation for population screening. New Engl J Med. 1997;336(18):1298–1301.
   PubMed Web of Science ®Google Scholar
• Xu XM, Zhou YQ, Luo GX, . The prevalence and spectrum of α and β thalassemia in Guangdong Province: implications for the future health burden and population screening. J Clin Pathol. 2004; 57(5):517–522.
   PubMed Web of Science ®Google Scholar
• Li D., Liao C, Li J, . Detection of α-thalassemia in β-thalassemia carriers and prevention of Hb Bart’s hydrops fetalis through prenatal screening. Haematologica. 2006;91(5):649–651.
   PubMed Web of Science ®Google Scholar
• Kalotychou V, Tzanetea R, Konstantopoulos K, Papassotiriou I, Rombos I. Erythrocytosis due to a combination of the high oxygen affinity hemoglobin variant, Hb Olympia [β20(B2)Val→Met] with β- and α-thalassemia mutations: first case in the literature. Hemoglobin. 2010;34(4):383–388.
   PubMed Web of Science ®Google Scholar
• Nava MP, Ibarra B, Magaña MT, Chavez ML, Perea FJ. Prevalence of –α3.7 and αααanti3.7 alleles in sickle cell trait and β-thalassemia patients in Mexico. Blood Cells Mol Dis. 2006;36(2):255–258.
   PubMed Web of Science ®Google Scholar
• Mast KJ, Hammond S, Qualman SJ, Kahwash SB. The coinheritance of β- and α-thalassemia: a review of one patient and her family. Lab Hematol. 2009;15(3):30–33.
   PubMedGoogle Scholar
• Al-Jaouni SK. Prevalence of thalassemia disorders and hemoglobinopathies in Jeddah, Western Saudi Arabia. J Appl Hematol. 2010;1(1):43–46.
   Google Scholar
• Acquaye J, Ganeshaguru K, Sejeny SA, . A study of thalassaemia families in Western Saudi Arabia. J Trop Geogr Med. 1985;37(4):319–327.
   PubMedGoogle Scholar
• Sejeny S, Ganeshaguru K, Samuel A, . The diagnosis value of globin biosynthesis in thalassemia. Saudi Med J. 1985;6(7):546–553.
   Google Scholar
• Niazi G, Rowland H. Haemoglobinopathies – a review. Saudi Med J. 1989;10(5):340–352.
   Google Scholar
• El-Hami MA. Haemoglobinopathies, thalassaemias and enzymopathies in Saudi Arabia: the present status. Acta Haematol. 1987; 78(2-3):130–134.
   PubMedGoogle Scholar
• Ankra-Badu GA, Al-Jama A, Al Vadim Y. Hemoglobin H disease in the Al-Qatif region of Saudi Arabia. Ann Saudi Med. 201;21(5–6):308–311.
   Google Scholar
• Al-Hamdan NA, Al-Mazrou Y, Al-Swaidi F, Choudhry AJ. Premarital screening for thalassemia and sickle cell disease in Saudi Arabia. Genet Med. 2007;9(6):372–377.
   PubMedGoogle Scholar
• Al Shahrani M. Steps toward the prevention of hemoglobinopathies in the Kingdom of Saudi Arabia. Hemoglobin. 2009;33(Suppl 1):S21–S24.
   Google Scholar
• El-Kalla S, Basal E. α-Thalassemia in the United Arab Emirates. Acta Haematol. 1998;100(1):49–53.
   PubMed Web of Science ®Google Scholar
• Jassim N, Al-Arrayed S, Gérard N, . Molecular basis of α-thalassemia in Bahrain. Bahrain Med Bull. 2001;23(1):3–7.
   Google Scholar
• Adekile AD, Gu L-H, Baysal E, . Molecular characterization of α-thalassemia determinants, β-thalassemia alleles, and βS haplotypes among Kuwaiti Arabs. Acta Haematol. 1994;92(4):176–181.
   PubMed Web of Science ®Google Scholar
• Giboney PT. Mildly elevated liver transaminase levels in the asymptomatic patient. Am Fam Physician. 2005;71(6):1105–1110.
   PubMed Web of Science ®Google Scholar
• Nyblom H, Berggren U, Balldin J, Olsson R. High AST/ALT ratio may indicate advanced alcoholic liver disease rather than heavy drinking. Alcohol Alcohol. 2004;39(4):336–339.
   PubMed Web of Science ®Google Scholar
• Sripichai O, Munkongdee T, Kukkhaek C, Vasti S, Winichagoon P, Fucharoen S. Coinheritance of the different copy numbers of α-globin gene modifies severity of β-thalassemia/Hb-E disease. Ann Hematol. 2008;87(5):375–379.
   PubMed Web of Science ®Google Scholar
• Voon HP, Vadolas J. Controlling α-globin: a review of α-globin expression and its impact on β-thalassemia. Haematologica. 2008;93(12):1868–1876.
   PubMed Web of Science ®Google Scholar