Molecular screening of the Hbs Constant Spring (codon 142, TAA>CAA, α2) and Paksé (codon 142, TAA>TAT, α2) mutations in Thailand

Hemoglobin

Volumn 34, Issue 6, 2010, Pages 582-586

  Pichanun, Dalad ^a,b   Munkongdee, Thongperm ^a   Klamchuen, Sumonmaln ^c   Butthep, Punnee ^b   Winichagoon, Pranee ^a   Fucharoen, Suthat ^a   Svasti, Saovaros ^a,d  

^a MAHIDOL UNIVERSITY   (Thailand)

^b MAHIDOL UNIVERSITY   (Thailand)

^c Nakhonpathom Hospital   (Thailand)

^d Mahidol University   (Thailand)

Author keywords

Dot blot hybridization; Elongated globin chain; Gene frequency; Hb Constant Spring (Hb CS); Hb Paks

Indexed keywords

ALPHA GLOBIN; HEMOGLOBIN; HEMOGLOBIN H; HEMOGLOBIN VARIANT; OLIGONUCLEOTIDE;

ALPHA THALASSEMIA; ARTICLE; BLOOD SAMPLING; CODON; DOT HYBRIDIZATION; GENE FREQUENCY; GENE MUTATION; GENOTYPE; PREVALENCE; THAILAND; UMBILICAL CORD BLOOD;

ALPHA-GLOBINS; ALPHA-THALASSEMIA; ASIAN CONTINENTAL ANCESTRY GROUP; CODON; GENETIC TESTING; HEMOGLOBINS, ABNORMAL; HUMANS; POINT MUTATION; PREVALENCE; THAILAND;

EID: 79952162877     PISSN: 03630269     EISSN: 1532432X     Source Type: Journal    
DOI: 10.3109/03630269.2010.526914     Document Type: Article

References (21)

1. Clegg JB, Weatherall DJ, Milner PF. Haemoglobin Constant Spring-a chain termination mutant? Nature. 1971;234(5328):337-340.
2. Waye JS, Eng B, Patterson M, Chui DHK, Olivieri NF. Identification of a novel termination codon mutation (TAA→TAT, Term→Tyr) in the α2 globin gene of a Laotian girl with Hemoglobin H disease. Blood. 1994;83(11):3418-3420. (Pubitemid 24158494)
3. Weatherall DJ, Clegg JB. The Thalassaemia Syndromes, 4th ed. Oxford: Blackwell Science; 2001.
4. Waggoner SA, Liebhaber SA. Regulation of α-globin mRNA stability. Exp Biol Med. (Maywood) 2003;228(4):387-395.
5. Turbpaiboon C, Limjindaporn T, Wongwiwat W, et al. Impaired interaction of α-haemoglobin-stabilising protein with α-globin termination mutant in a yeast two-hybrid system. Br J Haematol. 2006;132(3):370-373. (Pubitemid 43381543)
6. Fucharoen S, Winichagoon P, Pootrakul P, Piankijagum A, Wasi P. Differences between two types of Hb H disease, α-thalassemia 1/α-thalassemia 2 and α-thalassemia 1/Hb Constant Spring. Birth Defects Orig Artic Ser. 1987;23(5A):309-315.
7. Schrier SL, Bunyaratvej A, Khuhapinant A, Fucharoen S, Aljurf M, Snyder LM, et al. The unusual pathobiology of hemoglobin constant spring red blood cells. Blood 1997;89(5):1762-9. (Pubitemid 27097472)
8. Turbpaiboon C, Siritantikorn A, Thongnoppakhun W, et al. Hemoglobin Paksé: presence on red blood cell membrane and detection by polymerase chain reaction-single-strand conformational polymorphism. Int J Hematol. 2004;80(2):136-139. (Pubitemid 39201566)
9. Adirojnanon P, Wasi P. Levels of Haemoglobin H and proportions of red cells with inclusion bodies in the two types of Haemoglobin H disease. Br J Haematol. 1980;46(3):507-509. (Pubitemid 11226418)
10. Boonsa S, Sanchaisuriya K, Fucharoen G, Wiangnon S, Jetsrisuparb A, Fucharoen S. The diverse molecular basis and hematological features of Hb H and AEBart's diseases in Northeast Thailand. Acta Haematol. 2004;111(3):149-154. (Pubitemid 38437666)
11. Charoenkwan P, Taweephon R, Sae-Tung R, Thanarattanakorn P, Sanguansermsri T. Molecular and clinical features of Hb H disease in Northern Thailand. Hemoglobin. 2005;29(2):133-140. (Pubitemid 40686669)
12. Pootrakul P, Winichagoon P, Fucharoen S, Pravatmuang P, Piankijagum A, Wasi P. Homozygous Haemoglobin Constant Spring: a need for revision of concept. Hum Genet. 1981;59(3):250-255. (Pubitemid 12247026)
13. Viprakasit V, Tanphaichitr VS, Pung-Amritt P, et al. Clinical phenotypes and molecular characterization of Hb H-Paksé disease. Haematologica. 2002;87(2):117-125. (Pubitemid 34160616)
14. Chong SS, Boehm CD, Cutting GR, Higgs DR. Simplified multiplex-PCR diagnosis of common Southeast Asian deletional determinants of α-thalassemia. Clin Chem. 2000;46(10):1692-1695.
15. Fucharoen S, Fucharoen G, Fukumaki Y. Simple non-radioactive method for detecting Haemoglobin Constant Spring gene. Lancet. 1990;335(8704):1527. (Pubitemid 20224937)
16. Laig M, Pape M, Hundrieser J, et al. The distribution of the Hb Constant Spring gene in Southeast Asian populations. Hum Genet. 1990;84(2):188-190. (Pubitemid 20043877)
17. Sanchaisuriya K, Fucharoen S, Ratanasiri T, et al. Thalassemia and hemoglobinopathies rather than iron deficiency are major causes of pregnancy-related anemia in northeast Thailand. Blood Cells Mol Dis. 2006;37(1):8-11. (Pubitemid 44081876)
18. Thonglairoam V, Winichagoon P, Fucharoen S, et al. Hemoglobin Constant Spring in Bangkok: molecular screening by selective enzymatic amplification of the α2-globin gene. Am J Hematol. 1991;38(4):277-280.
19. Carnley BP, Prior JF, Gilbert A, et al. The prevalence and molecular basis of hemoglobinopathies in Cambodia. Hemoglobin. 2006;30(4):463-470. (Pubitemid 44435287)
20. Hsia YE, Ford CA, Shapiro LJ, Hunt JA, Ching NS. Molecular screening for Haemoglobin Constant Spring. Lancet. 1989;1(8645):988-991.
21. Ne W, Harano K, Harano T, et al. Hb Constant Spring [α142, Term→Gln (TAA>CAA in α2)] in the α-thalassemia of anemic patients in Myanmar. Hemoglobin. 2008;32(5):454-461.