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. 2012 Dec 8;4(2):147–167. doi: 10.1007/s12687-012-0127-8

Table 2.

Most frequent β-thalassemia mutations in Arab countries

Country (no of chromosomes) % of most common β-thalassemia mutations in Arab countries and their origin
IVS-1–110 (G>A) IVS-I-1 (G>A) IVS-II-1 (G>A) Codon 5 (−CT) IVS-II-745(C>G) Codon 37 (G>A) IVS-I-6 (T>C) Codon 39 (C>T) Codon 6 (−A) IVS-I-5 (G>C) IVS-I −25 bp Codon 8/9 (+G) Codon 44 (−C) Codon 8 (−AA) Other frequent mutations
East MED East MED East MED East MED East MED East MED MED West MED North African Asian-Indian Asian Indian Asian-Indian Kurdish Turkish
Algeria (210) 26.4 9.1 0.9 6.2 25.9 12.9 1.5 0.9 Boudrahem-Addour et al. (2009)
Algeria (239) 24.6 11.7 0.9 3.3 27.6 17.1 0.4 −29 (A>G; 3.8 %); IVS1–2 (T>C; 3.3 %) Bennani et al. (1994)
Bahrain (66) 1.5 3 6.1 24.2 16.7 36.1 1.5 4.5 Jassim et al. (1998)
Egypt (51) 31.4 17.6 5.9 2 5.9 17.6 2 −87 (C>G; 7.8 %) Hussein et al. (2007)
Egypt (95 pts) 25.8 19 2.1 6.4 1 36.3 1 −87 (C>G; 3.2 %); IVS-II-848 (1.6 %) El-Gawhary et al. (2007)*
Egypt (71) 41 13 3 3 3 1.4 13 1.4 3 IVS-II-848 (11.0 %) Hussein et al. (1993)
Upper Egypt (188) 57.4 9.6 5.3 20.2 2.1 1.1 −87 (C>G; 4.3 %) Jiffri et al. (2010)
Iraq, Northern (375) 7.7 12.8 24.5 7.5 0.3 5.1 4.8 4.8 10.1 4.5 10.9 Al-Allawi et al. (2006), Al-Allawi et al. (2010a), and Jalal et al. (2010)
Jordan (240) 25 10 15 3.8 14.2 6.3 8.3 4.6 1.3 1.3 0.8 Sadiq et al. (2001)
Kuwait (123) 6.5 5.7 25.2 5.7 15.4 14.6 7.3 2.4 0.8 5.7 Codon 36/37 (−T; 9.8 %) Adekile et al. (1994)
Lebanon (520) 34.2 15 8.7 5 1.2 14.4 <1 1.2 2.5 Codon 29 (C>T; 9.6 %) Makhoul et al. (2005)
Morocco (187) 3.21 8.56 0.53 13.9 26.2 13.37 0.5 0.5 9.63 −29 (A>G; 4.28 %); IVS1–2 (T>C;2.14 %) Lemsaddek et al. (2004)
Morocco (158) 5.7 5.06 2.5 7.6 3.16 3.16 26.58 5.7 13.91 −29 (A>G; 6.33 %); IVS1–2 (T>C;5.06 %) Agouti et al. (2008)
Oman (174) 0.5 1.1 3.6 4.5 0.5 4.5 73 4.5 3.4 1.1 Codon 30 (G>C) (4.5 %) Hassan et al. (2010)
Oman (99 pt) 0.5 1.0 3.6 0.5 0.5 1.0 61.6 5.6 619 bp deletion (4 %); Hb Dhofar (6.6 %) Daar et al. (1998)
Palestinian WB (136) 9.5 4.4 4.4 8.1 11.3 48.5 2.2 2.9 El-Latif et al. (2002)
Palestinian WB & Gaza (88 carrier couples) 22.2 9.7 6.2 8 12 13.6 9 8.5 2.8
Palestinian WB (148) 17.6 9 2.9 2.5 0.3 10.4 28.7 4.6 0.3 1.1 1.4 Codon 106/107 (+G; 6.8 %); IVS-II-848 (2.5 %) Darwish et al. (2005)
Palestinian Gaza 37.5 20 1.0 10 1.0 7.5 11.5 5 Ayesh et al. (2005) and Filon et al. (1995)
Qatar (65) 6.2 1.5 9.2 1.5 35.4 6.2 26.1 3.1 3.1 Codon 15 (G>A; 3.1 %) Al-Obaidli et al. (2007)
Saudi Arabia, Eastern (88) 5.8 27.5 1.5 1.5 4.4 20.3 23.2 4.4 1.5 Al-Ali et al. (2005)
Saudi Arabia, Eastern (196 pts) 2.55 3.83 22.2 3.06 0.51 7.14 25 13.3 13 1.53 0.51 2.08 Al-Sultan et al. (2011)
Saudi Arabia, Eastern (53) 15.1 32.1 1.9 22.6 3.8 7.5 15.1 El-Harth et al. (1999)
Saudi Arabia, Western (297) 13.5 4 17.5 2.4 1 7.7 19.2 2.7 7.4 2 2 Codon 26 (G>A); HbE (9.1 %) Abuzenadah et al. (2011)
Saudi Arabia (186) 26.9 12.9 12.9 12.9 12.9 1.07 El-Hazmi et al. (1995)
Syria (141) 24.1 17.0 4.2 8.5 1.4 1.4 4.2 6.4 0.7 1.4 0.7 −30 (T>A; 7.1 %); Codon 15 (G>A; 3.5 %) Kyriacou et al. (2000)
Tunisia (118) 10.81 4.32 1.62 2.16 1.08 0.54 43.78 7.02 3.24 1.62 0.54 IVS-II-849 (A>C; 4.32 %) Chouk et al. (2004)
Tunisia (475) 21 4.5 0.6 0.4 2.6 0.6 49 2.6 1.0 3.8 0.2 IVS-I-2 (T>G; 3.0 %) Fattoum et al. (2004)
Tunisia (121) 15.7 3.31 2.48 48.76 1.65 1.65 IVS-I-2 (T>G; 19.83 %) Laradi et al. (2000)
UAE (647) 1.2 3.6 2.6 0.2 1.6 2.8 56.7 11.0 3.9 0.9 2.8 HbS alleles excluded Baysal (2011)
UAE (626) 0.6 0.6 2.9 1.6 0.2 1.6 2.7 47.6 6.2 4.3 0.6 1.9 The series included 21.9 % HbS alleles Baysal (2005)