Molecular basis of haemoglobinopathies in the UAE: Implications for prenatal diagnosis and prevention programmes

Emirates Medical Journal

Volumn 25, Issue 1, 2007, Pages 7-21

  Baysal, Erol ^a   Yousef, Iqbal ^a   Zeinali, Mahnaz ^a   Abdullah, Halya ^a   Essa, Mona ^a   Taleb, Mahmoud ^a   Redha, Ali ^a  

^a Department of Pathology   (United Arab Emirates)

Author keywords

[No Author keywords available]

Indexed keywords

ALPHA GLOBIN; BETA GLOBIN; DNA; HEMOGLOBIN; HEMOGLOBIN F; MESSENGER RNA; RNA;

ALPHA THALASSEMIA; BETA THALASSEMIA; CLINICAL FEATURE; CONSANGUINITY; DISEASE CONTROL; DNA EXTRACTION; GENE FREQUENCY; GENE IDENTIFICATION; GENE MUTATION; GENETIC COUNSELING; GENETIC HETEROGENEITY; GENETIC RISK; GENETIC TRANSCRIPTION; GENOTYPE PHENOTYPE CORRELATION; HAPLOTYPE; HEALTH CARE ORGANIZATION; HEALTH CENTER; HEALTH PROGRAM; HEMOGLOBIN BLOOD LEVEL; HEMOGLOBIN DETERMINATION; HEMOGLOBINOPATHY; HETEROZYGOTE DETECTION; HOMOZYGOSITY; HUMAN; INCIDENCE; LINKAGE ANALYSIS; MASS SCREENING; MEDICAL EXAMINATION; MOLECULAR EVOLUTION; MUTATIONAL ANALYSIS; PRENATAL DIAGNOSIS; PREVALENCE; REVIEW; RISK ASSESSMENT; RNA PROCESSING; RNA SPLICING; SICKLE CELL ANEMIA; UNITED ARAB EMIRATES;

EID: 34447116924     PISSN: 02506882     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Review

References (46)

1. Al Hosani H: Health for all in the United Arab Emirates. East Mediterr Health J, 2000; 6(4): 838-840
2. Baysal E, Indrak K, Bozkurt G, Berkalp A, Aritkan E, et al: The β-thalassemia mutations in the population of Cyprus. Br J Haematol, 1992; 81: 607-609.
3. Cao A and Galanello R: Effect of Consanguinity on Screening for Thalassemia. NEJM 2002; 347: 1200-1202.
4. Cao A, Rosatelli MC and Galanello R: Control of beta-thalassaemia by carrier screening, genetic counselling and prenatal diagnosis: the Sardinian experience. Ciba Found Symp, 1996; 197: 137-151; discussion 151-155. Review.
5. Fucharoen S, Fucharoen G, Sanchaisuriya K and Pengjam Y: Molecular analysis of a Thai beta-thalassaemia heterozygote with normal haemoglobin A2 level: implication for population screening. Ann Clin Biochem, 2002; 39(Pt 1): 44-49.
6. Flint J, Harding RM, Boyce AJ and Clegg JB: The population genetics of the haemoglobinopathies. Baillieres Clin Haematol, 1998; 11(1): 1-51.
7. Them SL: β-Thalassemia. Bailliere's Clin Haematol, 1998; 11(1): 91-126.
8. Huisman THJ, Carver MFH and Baysal E: A syllabus of Thalassemia Mutations (1997) The Sickle Cell Anaemia Foundation, Augusta, GA, USA. (http://globin.cse.psu.edu).
9. White JM, Bryne M, Richards R, Buchanan T, Sheik-Yousouf I: Thalassemia genes in peninsular Arabs. Br J Haematol, 1985; 60: 269-278.
10. White JM, Bryne M, Richards R, Buchanan T, Katsoulis E and Weerasingh K: Red cell genetic abnormalities in Peninsular Arabs: sickle haemoglobin, G6PD deficiency, and alpha and beta thalassaemia. J Med Genet, 1986; 23(3): 245-251.
11. El-Hazmi MAF and Warsy AS: Genetic disorders among Arab populations. Saudi Med J, 1996; 17: 108-123.
12. Al Gazali LI: Genetic Disorders in the UAE. In: Teebi AS, Farag TI. Genetic disorders among Arab populations. UK: Oxford University Press, 1997; pp.341-372.
13. Quaife RQ, Al Gazali L, Abbas S, Fitzgerald P, et al: The spectrum of b-thalassemia mutations in the UAE national population. J Med Genet, 1994; 31: 59-61.
14. El-Kalla S and Baysal E: α-Thalassemia In the United Arab Emirates. Acta Haematol, 1998; 100: 149-153.
15. Baysal E: Haemoglobinopathies in the United Arab Emirates, Advances in Haemoglobinopathies Research. Hemoglobin, 2001; 25 (2): 247-253.
16. Baysal E: Molecular heterogeneity of β-Thalassemia in the United Arab Emirates. Community Genetics, 2005; 8: 35-39.
17. El-Kalla S and Baysal E: Genotype Phenotype Correlation of Sickle Cell Disease in the United Arab Emirates. Pediat Hematol Oncol, 1998; 15(3): 237-242.
18. Baysal E and Huisman THJ: Detection of common α-thalassemia-2 determinants by PCR. Am J Hematol, 1994; 46(3): 208-213.
19. Poncz M, Solowiejczyk D, Harpel B, Mory Y, Schwartz E and Surrey S: Construction of human gene libraries from small amounts of peripheral blood: Analysis of β-like globin genes. Hemoglobin, 1982; 6: 27-36.
20. S haplotypes among Kuwaiti Arabs. Acta Haematologica, 1994; 92: 176-181.
21. Al Gazali LI, Bener A, Abdulrazzaq YM, Micallef R, Al Khayat AI and Gaber T: Consanguineous marriages in the United Arab Emirates. J Biosoc Sci, 1997; 29: 491-497.
22. White, JM, et al: Frequency and clinical significance of erythrocyte genetic abnormalities in Oman. J Med Genet, 1993; 30: 396-400.
23. Weatherall DJ and Clegg JB: The thalassemia syndromes. In: Blackwell Science Ltd, Osney Mead, Oxford, UK, 2001.
24. Higgs DR, Goodbourn SE, Lamb J, Clegg JB, Weatherall DJ and Proudfoot NJ: Alpha-thalassaemia caused by a polyadenylation signal mutation. Nature, 1983; 306(5941): 398-400.
25. S gene cluster haplotypes as genetic markers for severe disease expression. Am J Dis Child, 1993; 147: 1197-1202
26. Dimovski AJ, Oner C, Agarwal S, Gu YC, et al: Certain mutations observed in the 5′ sequences of the G gamma- and A gamma-globin genes of beta S chromosomes are specific for chromosomes with major haplotypes. Acta Haematol, 1991; 85(2): 79-87.
27. Barwani MA: Zanzibari Nationality and Ethnicity; International Conference on the History and Culture of Zanzibar, Dec. 1992.
28. Cao A, Rosatelli MC and Galanello R: Population-based genetic screening. Curr Opin Genet Dev, 1991; 1(1): 48-53. Review.
29. Angastiniotis M, Kyriakidou S and Hadjiminas M: The Cyprus Thalassemia Control Programme. Birth Defects Orig Artic Ser, 1988; 23: 417-432.
30. Angastiniotis M, Modell B, Englezos P and Boulyjenkov V: Prevention and control of haemoglobinopathies. Bull World Health Organ, 1995; 73(3): 375-86. Review
31. Embury SH: (Advances in the prenatal and molecular diagnosis of the haemoglobinopathies and thalassemias. Hemoglobin, 1995; 19(5): 237-261. Review.
32. Barrai and Vullo: Assessment of prospective genetic counseling in the Ferrara area. Am J Med Genet, 1980; 6: 195-204.
33. Winichagoon P, Saechan V, Sripanich R, Nopparatana C, et al: Prenatal diagnosis of beta-thalassaemia by reverse dot-blot hybridization. Prenat Diagn, 1999; 19(5): 428-435.
34. Alwan A and Modell B: Community control of genetic ad congenital disorders. Alexandria: Eastern Mediterranean Regional Office, WHO, 1997. (EMRO Technical Publication 24).
35. Al Arrayed S: Campaign to control genetic blood diseases in Bahrain. Community Genet, 2005; 8: 52-55.
36. Marouf R, D'souza TM and Adekile AD: Hemoglobin electrophoresis and haemoglobinopathies in Kuwait. Med Princ Pract, 2002; 11(1): 38-41.
37. Fattoum S, Messaoud T and Bibi A: Molecular basis of beta-thalassemia in the population of Tunisia. Hemoglobin, 2004; 28(3): 177-187.
38. Hamamy H, Al-Hait S, Alwan A and Ajlouni K: Communities and community genetics. Community Genet, 2007; 10(1): 52-60.
39. El Kalla and Mathews: A significant beta thalassemia heterogeneity in the United Arab Emirates. Hemoglobin, 1997; 21(3): 237-247.
40. Samavat A and Modell B: Iranian national thalassaemia screening programmeme. BMJ, 2004; 329: 1134-1137.
41. Ahmed S, Saleem M, Rashid Y, Abbas N and Malik IA: The first prenatal diagnosis of thalassemia in Pakistan: a case report. Pakistan Journal of Pathology, 1994; 5: 68-69.
42. Ahmed S, Petrou M, Saleem M: Molecular genetics of beta-thalassaemia in Pakistan: a basis for prenatal diagnosis. Br J Haematol, 1996; 94(3): 476-482.
43. Ahmed S, Saleem M, Sultana N, Raashid Y, Waqar A, et al: Prenatal diagnosis of beta-thalassaemia in Pakistan: Experience in a Muslim country. Prenat Diagn, 2000; 20(5): 378-383.
44. Al-Gazali L, Hamamy H, Al-Arrayad S: Genetic disorders in the Arab world. BMJ 2006; 333: 831-834.
45. Bener A, Abdulrazzaq YM, Al Gazali LI, Micallef R, Al Khayat AI and Gaber T: Consanguinity and associated socio-demographic factors in the United Arab Emirates. Hum Hered, 1996; 46: 256-264.
46. Baysal E: Haemoglobinopathies in the United Arab Emirates, Publication by Center for Arab Genomic Studies; Eds, Tadmouri, GO, Al Ali, MT and Al Khaja N, 2004; 1: 51-54.