The carrier frequency of α-globin gene triplication in an Iranian population with normal or borderline hematological parameters

Hemoglobin

Volumn 35, Issue 4, 2011, Pages 323-330

  Moosavi, Seyedeh Fatemeh ^a   Amirian, Azam ^a   Zarbakhsh, Behnaz ^a   Kordafshari, Alireza ^a   Mirzahoseini, Hasan ^a   Zeinali, Sirous ^a   Karimipoor, Morteza ^a  

^a PASTEUR INSTITUTE OF IRAN   (Iran)

Author keywords

anti 3.7 Triplication; Thalassemia ( thal); multiplex ligation dependent probe amplification (MLPA); Multiplex polymerase chain reaction (m PCR)

Indexed keywords

ALPHA GLOBIN; HEMOGLOBIN; HEMOGLOBIN A2; HEMOGLOBIN F;

ARTICLE; BETA THALASSEMIA; CONSANGUINITY; ERYTHROCYTE COUNT; FEMALE; GENE FREQUENCY; GENE REARRANGEMENT; GENE TRIPLICATION; GENETIC SCREENING; HEMOGLOBIN BLOOD LEVEL; HETEROZYGOTE; HOMOZYGOSITY; HUMAN; HUMAN TISSUE; IRAN; MALE; MEAN CORPUSCULAR HEMOGLOBIN; MEAN CORPUSCULAR VOLUME; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; MULTIPLEX POLYMERASE CHAIN REACTION; MUTATIONAL ANALYSIS; NORMAL HUMAN; PHENOTYPE; POPULATION GENETICS;

ALPHA-GLOBINS; BETA-THALASSEMIA; CONSANGUINITY; FAMILY HEALTH; FEMALE; GENE DUPLICATION; GENE FREQUENCY; GENOTYPE; HETEROZYGOTE; HUMANS; IRAN; MALE; MULTIPLEX POLYMERASE CHAIN REACTION; NUCLEIC ACID AMPLIFICATION TECHNIQUES; PEDIGREE; PHENOTYPE;

EID: 79960990895     PISSN: 03630269     EISSN: 1532432X     Source Type: Journal    
DOI: 10.3109/03630269.2011.571527     Document Type: Article

References (24)

1. Samavat A, Modell B. Iranian national thalassaemia screening programme. Br Med J. 2004;329(7475):1134-1137. (Pubitemid 39524770)
2. Harteveld CL, Yavarian M, Zorai A, Quakkelaar ED, van Delft P, Giordano PC. Molecular spectrum of α-thalassemia in the Iranian population of Hormozgan: three novel point mutation defects. Am J Hematol. 2003;74(2):99-103. (Pubitemid 37187725)
3. Weatherall DJ. Pathophysiology of thalassaemia. Bailliere's Clin Haematol. 1998;11(1):127-146. (Pubitemid 29039020)
4. Weatherall DJ. Phenotype-genotype relationships in monogenic disease: lessons from the thalassaemias. Nat Rev Genet. 2001;2(4):245-255. (Pubitemid 33674773)
5. Traeger-Synodinos J, Kanavakis E, Vrettou C, et al. The triplicated α-globin gene locus in β-thalassaemia heterozygotes: clinical, haematological, biosynthetic and molecular studies. Br J Haematol. 1996;95(3):467-471. (Pubitemid 26388686)
6. Camaschella C, Kattamis AC, Petroni D, et al. Different hematological phenotypes caused by the interaction of triplicated α-globin genes and heterozygous β-thalassemia. Am J Hematol. 1997;55(2):83-88. (Pubitemid 27305709)
7. Embury SH, Miller JA, Dozy AM, Kan YW, Chan V, Todd D. Two different molecular organizations account for the single α-globin gene of the α-thalassemia-2 genotype. J Clin Invest. 1980;66(6): 1319-1325. (Pubitemid 11205593)
8. Higgs DR, Old JM, Pressley L, Clegg JB, Weatherall DJ. A novel α-globin gene arrangement in man. Nature. 1980;284(5757):632-635. (Pubitemid 10070875)
9. Goossens M, Dozy AM, Embury SH, et al. Triplicated α-globin loci in humans. Proc Natl Acad Sci USA. 1980;77(1):518-521.
10. Lie-Injo LE, Herrera AR, Kan YW. Two types of triplicated α-globin loci in humans. Nucleic Acids Res. 1981;9(15):3707-3717. (Pubitemid 12193576)
11. Neishabury M, Oberkanins C, Moheb LA, et al. High prevalence of the -α3.7 deletion among thalassemia patients in Iran. Hemoglobin. 2003;27(1):53-55. (Pubitemid 36227865)
12. Fallah MS, Aleyasin SA, Ebrahimi A, et al. Molecular characterization of thalassemia intermedia, due to co-inheritance of homozygous α triplication and IVS-I-5 β-thalassemia. Blood Cell Mol Dis. 2009;43(2):158-160.
13. Peres MJ, Romao L, Carreiro H, et al. Molecular basis of α-thalassemia in Portugal. Hemoglobin. 1995;19(6):343-352.
14. Giordano PC, Bakker-Verwij M, Harteveld CL. Frequency of α-globin gene triplications and their interaction with β-thalassemia mutations. Hemoglobin. 2009;33(2):124-131.
15. Nadkarni A, Phanasgaonkar S, Colah R, Mohanty D, Ghosh K. Prevalence and molecular characterization of α-thalassemia syndromes among Indians. Genet Test. 2008;12(2):177-180. (Pubitemid 351860435)
16. Miller SA, Dykes DD, Polesky HF. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res. 1988;16(3):1215.
17. Wang W, Ma ES, Chan AY, et al. Single-tube multiplex-PCR screen for anti-3.7 and anti-4.2 α-globin gene triplications. Clin Chem. 2003;49(10):1679-1682. (Pubitemid 37194228)
18. Harteveld CL, Voskamp A, Phylipsen M, et al. Nine unknown rearrangements in 16p13.3 and 11p15.4 causing α- and β-thalassaemia characterised by high resolution multiplex ligationdependent probe amplification. J Med Genet. 2005;42(12):922-931. (Pubitemid 41811314)
19. Kimura EM, Grignoli CR, Pinheiro VR, Costa FF, Sonati MF. Thalassemia intermedia as a result of heterozygosis for β0-thalassemia and αααanti-3.7 genotype in a Brazilian patient. Braz J Med Biol Res. 2003;36(6):699-701. (Pubitemid 36874719)
20. Kanavakis E, Metaxotou-Mavromati A, Kattamis C, Wainscoat JS, Wood WG. The triplicated α gene locus and β thalassaemia. Br J Haematol. 1983;54(2):201-207.
21. Sampietro M, Cazzola M, Cappellini MD, Fiorelli G. The triplicated α-gene locus and heterozygous β thalassaemia: a case of thalassaemia intermedia. Br J Haematol. 1983;55(4):709-710.
22. Camaschella C, Bertero MT, Serra A, et al. A benign form of thalassaemia intermedia may be determined by the interaction of triplicated α locus and heterozygous β-thalassaemia. Br J Haematol. 1987;66(1):103-107. (Pubitemid 17071196)
23. Harteveld CL, Refaldi C, Cassinerio E, Cappellini MD, Giordano PC. Segmental duplications involving the α-globin gene cluster are causing β-thalassemia intermedia phenotypes in β-thalassemia heterozygous patients. Blood Cells Mol Dis. 2008;40(3):312-316.
24. Premawardhena A, Fisher CA, Olivieri NF, et al. A novelmolecular basis for β thalassemia intermedia poses new questions about its pathophysiology. Blood. 2005;106(9):3251-3255. (Pubitemid 41565926)