Application of diagnostic methods and molecular diagnosis of hemoglobin disorders in Khuzestan province of Iran

Indian Journal of Human Genetics

Volumn 13, Issue 1, 2007, Pages 5-15

  Fakher, Rahim ^a,c   Bijan, Kaeikhaei ^a   Taghi, Akbari Mohammad ^b  

^a AHVAZ JUNDISHAPUR UNIVERSITY OF MEDICAL SCIENCES   (Iran)

^b Dr Akbari Medical Genetics and PND Laboratory   (Iran)

^c Dept A1 ^*  (India)

Author keywords

Hemoglobin variants; Hemoglobinopathies; Iron deficiency anemia; Polymerase chain reaction; Prenatal diagnosis; and thalassemia

Indexed keywords

HEMOGLOBIN VARIANT;

ADULT; ALPHA THALASSEMIA; BETA THALASSEMIA; CONTROLLED STUDY; DIAGNOSTIC ACCURACY; DIAGNOSTIC PROCEDURE; DIAGNOSTIC VALUE; DNA SEQUENCE; ELECTROPHORESIS; ETHNIC GROUP; FIRST TRIMESTER PREGNANCY; GENE INTERACTION; GENE MUTATION; HEMOGLOBINOPATHY; HUMAN; IRAN; IRON DEFICIENCY ANEMIA; MAJOR CLINICAL STUDY; MOLECULAR GENETICS; NUCLEOTIDE SEQUENCE; PHENOTYPE; POLYMERASE CHAIN REACTION; PRENATAL DIAGNOSIS; REVIEW; SICKLE CELL ANEMIA; THALASSEMIA;

EID: 34247844520     PISSN: 09716866     EISSN: None     Source Type: Journal    
DOI: 10.4103/0971-6866.32028     Document Type: Review

References (41)

1. st ed. Shiraz University of Medical Sciences Publishing Center: Shiraz; 1997. [Book in Persian]
2. Cao A, Saba L, Galanello R, Rosatelli MC. Molecular diagnosis and carrier screening for beta thalassemia. JAMA 1997;278:1273-7.
3. Lorey FW, Arnopp J, Cunningham GC. Distribution of hemoglobinopathy variants by ethnicity in a multiethnic state. Genet Epidemiol 1996;13:501-12.
4. Birgens HS, Karle H, Guldberg P, Guttler F. Hemoglobinopathy in the county of Copenhagen. Ugeskr Laeger 1997;159:3934-9.
5. Vetter B, Schwarz C, Kohne E, Kulozik AE. Beta-thalassemia in the immigrant and non-immigrant German populations. Br J Haematol 1997;97:266-72.
6. Rengelink-van der Lee JH, Schulpen TW, Beemer FA. Incidence and prevalence of hemoglobinopathies in children in The Netherlands. Ned Tijdschr Geneeskd 1995;139:1498-501.
7. th ed. Blackwell Scientific: 2001.
8. Angastiniotis M, Modell B. Global epidemiology of hemoglobin disorders. Ann N Y Acad Sci 1998;850:251-69.
9. Rund D, Rachmilewitz E. Beta-Thalassemia. N Engl J Med 2005;353:1135-46.
10. nd ed. Robert Williamson, Academic Press: 1981. p. 1-48.
11. Mentzer WC Jr. Differentiation of iron deficiency from thalassemia trait. Lancet 1973;1:882.
12. England JM, Fraser PM. Differentiation of iron deficiency from thalassemia trait by routine blood- count. Lancet 1973;1:449-52.
13. Srivastava PC, Bevington JM. Iron deficiency and-or thalassemia trait. Lancet 1973;1:832.
14. Green R, King R. A new red blood cell discriminant incorporating volume dispersion for differentiating iron deficiency anemia from thalassemia minor. Blood Cells 1989;15:481-95.
15. Shine I, Lal S. A strategy to detect beta-thalassemia minor. Lancet 1977;1:692-4.
16. Jayabose S, Giavanelli J, Levendoglu-Tugal O, Sandoval C, Özkaynak F, Visintainer P. Differentiating iron deficiency anemia from Thalassemia minor by using an RDW-based index. J Pediatr Hematol 1999;21:314.
17. Telmissanil OA, Khalil S, George TR. Mean density of hemoglobin per liter of blood: A new hematologic parameter with an inherent discriminant function. Lab Haematol 1999;5:149-52.
18. Wild BJ, Bain BJ. Detection and quantitation of normal and variant haemoglobins: An analytical review. Ann Clin Biochem 2004;41:355-69.
19. The laboratory diagnosis of haemoglobinopathies. Br J Haematol 1998;101:783-92.
20. Cheung MC, Goldberg JD, Kan YW. Prenatal diagnosis of sickle cell anaemia and thalassemia by analysis of fetal cells in maternal blood. Nat Genet 1996;14:264-8.
21. Chiu RW, Lau TK, Leung TN, Chow KC, Chui DH, Lo YM. Prenatal exclusion of beta thalassemia major by examination of maternal plasma. Lancet 2002;360:998-1000.
22. Cotton RG, Edkins E, Forrest S, editors. Mutation detection. A practical approach. IRL Press: Oxford; 1998.
23. Saiki RK, Scharf S, Faloona F, Mullis KB, Horn GT, Erlich HA, et al. Enzymatic amplification of β-globin genomic sequences and restriction site analysis for diagnosis of sickle cell anaemia. Science 1985;230:1350-4.
24. Southern EM. Detection of specific sequences among DNA fragments separated by gel electrophoresis. J Mol Biol 1975;98:503-17.
25. 3r ed. Cold Spring Harbor Laboratory Press: New York; 2001.
26. Newton CR, Graham A, Heptinstall LE, Powell SJ, Summers C, Kalsheker N, et al. Analysis of any point mutation in DNA. The amplification refractory mutation system (ARMS). Nucleic Acids Res 1989;17:2503-16.
27. Old JM, Varawalla NY, Weatherall DJ. Rapid detection and prenatal diagnosis of β-thalassemia: Studies in Indian and Cypriot populations in the UK. Lancet 1990;336:834-7.
28. Ye S, Dhillon S, Ke X, Collins AR, Day IN. An efficient procedure for genotyping single nucleotide polymorphisms. Nucleic Acids Res 2001;29:E88-8.
29. Faa V, Rosatelli MC, Sardu R, Meloni A, Toffoli C, Cao A. A simple electrophoretic procedure for fetal diagnosis of beta-thalassemia due to short deletions. Prenat Diagn 1992;12:903-8.
30. Craig JE, Barnetson RA, Prior J, Raven JL, Thein SL. Rapid detection of deletions causing delta beta thalassemia and hereditary persistence of fetal hemoglobin by enzymatic amplification. Blood 1994;83:1673-82.
31. Chong SS, Boehm CD, Higgs DR, Cutting GR. Single-tube multiplex-PCR screen for common deletional determinants of alpha-thalassemia. Blood 2000;95:360-2.
32. Liu YT, Old JM, Miles K, Fisher CA, Weatherall DJ, Clegg JB. Rapid detection of alpha-thalassemia deletions and alpha-globin gene triplication by multiplex polymerase chain reactions. Br J Haematol 2000;108:295-9.
33. Tan JA, Tay JS, Lin LI, Kham SK, Chia JN, Chin TM, et al. The amplification refractory mutation system (ARMS): A rapid and direct prenatal diagnostic technique for beta-thalassemia in Singapore. Prenat Diagn 1994;14:1077-82.
34. Higgs DR. Molecular mechanisms of alphathalassemia. In: Disorders of Hemoglobin: Genetics, Pathophysiology and Clinical Management. Steinberg MH, Forget BG, Higgs DR, Nagel RL, editors. Cambridge University Press: Cambridge, UK; 2001. p. 405-30.
35. Tan AS, Quah TC, Low PS, Chong SS. A rapid and reliable 7-deletion multiplex polymerase chain reaction assay for alpha-thalassemia. Blood 2001;98:250-1.
36. Dodé C, Krishnamoorthy R, Lamb J, Rochette J. Rapid analysis of -alpha3.7 thalassemia and alpha-alpha-alphaanti 3.7 triplication by enzymatic amplification analysis. Br J Haematol 1992;82:105-11.
37. Pirastu M, Ristaldi MS, Cao A. Prenatal diagnosis of beta thalassemia based on restriction endonuclease analysis of amplified fetal DNA. J Mel Genet 1989;26:363-7.
38. Jassim N, Al-Arrayed S, Gerard N, Al-Mukharraq H, Al-Ajami A, Ramasawmy R, et al. A mismatched-primer polymerase chain reaction-restriction fragment length polymorphism strategy for rapid screening of the polyadenylation signal mutation alpha(T-Saudi) (AATAAA → AATAAG) in the alpha2-globin gene. Hemoglobin 1999;23:213-20.
39. nd ed. Robert Williamson, Academic Press: 1981. p. 1-48.
40. Old JM. Fetal DNA analysis. In: Human genetic diseases - A practical approach. Davies KE, editor. IRL Press: Oxford; 1986. p. 1-17.
41. Decorte R, Cuppens H, Marynen P, Cassiman JJ. Rapid detection of hypervariable regions by the polymerase chain reaction technique. DNA and Cell Biol 1990;9:461-9.