Multiplex allele-specific PCR assay for differential diagnosis of Hb S, Hb D-Punjab and Hb Tak

Clinica Chimica Acta

Volumn 343, Issue 1-2, 2004, Pages 129-134

  Sanchaisuriya, Kanokwan ^a   Chunpanich, Sunisa ^a   Fucharoen, Goonnapa ^a   Fucharoen, Supan ^a  

^a KHON KAEN UNIVERSITY   (Thailand)

Author keywords

Hb D Punjab; Hb S; Hb Tak; Multiplex allele specific PCR

Indexed keywords

CARRIER PROTEIN; DNA; HEMOGLOBIN CHAIN; HEMOGLOBIN DELTA CHAIN; HEMOGLOBIN S; HEMOGLOBIN VARIANT;

ALLELE; ANALYTIC METHOD; ARTICLE; ASIA; DIFFERENTIAL DIAGNOSIS; ELECTROPHORESIS; FEMALE; GENE MUTATION; HEMOGLOBIN ANALYSIS; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; HUMAN; MAJOR CLINICAL STUDY; MALE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROTEIN VARIANT; SCREENING; THAILAND; VALIDATION PROCESS;

ALLELES; ALPHA-THALASSEMIA; CHROMATOGRAPHY, HIGH PRESSURE LIQUID; DIAGNOSIS, DIFFERENTIAL; FEMALE; GENETIC SCREENING; HEMOGLOBIN, SICKLE; HEMOGLOBINOPATHIES; HEMOGLOBINS, ABNORMAL; HUMANS; HYDROGEN-ION CONCENTRATION; MALE; POLYMERASE CHAIN REACTION;

EID: 2042538031     PISSN: 00098981     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.cccn.2003.12.029     Document Type: Article

References (25)

1. Huisman T.H.J., Carver M.F.H., Efremov G.D. A syllabus of human hemoglobin variants. 1996;The Sickle Cell Anemia Foundation, Augusta, GA, USA. (http://www.globin.cse.psu.edu)
2. Fucharoen S., Winichagoon P. Hemoglobinopathies in Southeast Asia. Hemoglobin. 11:1987;65-88
3. Wasi P., Pootrakul S., Na-Nakorn S., Beale D., Lehmann H. Hemoglobin D Los Angeles (D-Panjab, α2β2 121 Glu→Gln) in a Thai family. Acta Haematol. 39:1968;151-158
4. Fucharoen S., Changtrakun Y., Surapot S., Fucharoen G., Sanchaisuriya K. Molecular characterization of Hb D-Punjab [β121(GH4) Glu-Gln] in Thailand. Hemoglobin. 26:2002;261-269
5. Flatz G., Kinderlerer J., Kilmartin J. Haemoglobin Tak: a variant with additional residues at the end of the beta chains. Lancet. 7702:1971;732-733
6. Lie-Injo L.E., Randhawa Z.I., Ganesan J., Kane J., Peterson D. Hemoglobin Tak in a newborn Malay. Hemoglobin. 1:1977;747-757
7. Fucharoen S., Fucharoen G., Sae-ung N., Sanchaisuriya K., Fukumaki Y. Molecular and hematological characterization of Hb Tak and Hb Pyrgos in Thailand. Southeast Asian J. Trop. Med. Public Health. 28(Suppl. 3):1997;110-114
8. Tanphaichitr V.S., Viprakasit V., Veerakul G., Sanpakit K., Tientadakul P. Homozygous hemoglobin Tak causes symptomatic secondary polycythemia in a Thai boy. J. Pediatr. Hematol. Oncol. 25:2003;261-265
9. Fucharoen S., Ayukarn K., Sanchaisuriya K., Fucharoen G. A typical hemoglobin H disease in a Thai patient resulting from a combination of α-thalassemia 1 and hemoglobin Constant Spring with hemoglobin J-Bangkok heterozygosity. Eur. J. Haematol. 66:2001;312-316
10. Sanchaisuriya K., Fucharoen G., Sae-ung N., Siriratmanawong N., Surapot S., Fucharoen S. Molecular characterization of hemoglobin C in Thailand. Am. J. Hematol. 67:2001;189-193
11. Changtrakun Y., Fucharoen S., Ayukarn K., Siriratmanawong N., Fucharoen G., Sanchaisuriya K. Compound heterozygosity for Hb Korle-Bu (β73; Asp-Asn) and Hb E (β26; Glu-Lys) with a 3.7 kb deletional α-thalassemia in Thai patients. Ann. Hematol. 81:2002;389-393
12. Sangkitporn S.K., Mitrakul C., Rerkamnuaychoke B., Sutivigit Y., Sangkitporn S. Hb G Makassar (β6; Glu-Ala) in a Thai family. J. Med. Assoc. Thail. 85:2002;577-582
13. Viprakasit V., Wiriyasateinkul A., Sattayasevana B., Miles K.L., Laosombat V. Hb G-Makassar [β6(A3)Glu→Ala; codon 6 (GAG→GCG)]: molecular characterization, clinical and hematological effects. Hemoglobin. 26:2002;245-253
14. Changtrakul Y., Suksa-ard V., Fucharoen G., Sanchaisuriya K., Fucharoen S. Identification of Hb S in Thai patients. Songkla Med. J. 20:2002;201-209. [in Thai]
15. Weatherall D.J., Clegg J.B. The thalassaemia syndromes. 4th edn. 2001;Blackwell, Oxford, UK
16. Fucharoen S., Fucharoen G., Sriroongreung W., Laosombat V., Jetsrisuparb A., Prasatkaew S., et al. Molecular basis of β-thalassemia in Thailand: analysis of β-thalassemia mutations using the polymerase chain reaction. Hum. Genet. 84:1989;41-46
17. Bunn H.F., Forget B.G. Hemoglobin: molecular, genetic and clinical aspects. 1986;Saunders, Philadelphia, PA, USA
18. Fucharoen G., Fucharoen S. Rapid and simultaneous non-radioactive method for detecting β-thalassemia 1 (SEA type) and Hb Constant Spring genes. Eur. J. Haematol. 53:1994;186-187
19. 2 level: implication for population screening. Ann. Clin. Biochem. 39:2002;44-49
20. Brittenham G.M. Globin gene variants and polymorphisms in India. Winter W.P. Hemoglobin variants in human populations. 2:1987;79-110 CRC Press, Boca Raton, FL, USA
21. Li H., Zhao X., Qin F., Li H.W., Li L., He X., et al. Abnormal hemoglobin in Silk Road region of China. Hum. Genet. 86:1990;231-235
22. Bain B.J. Haemoglobinopathy diagnosis. 2001;Blackwell, London, UK
23. Imai K., Tientadakul P., Opartkiattikul N., Luenee P., Winichagoon P., Svasti J., et al. Detection of haemoglobin variants and inference of their functional properties using complete oxygen dissociation curve measurements. Br. J. Haematol. 112:2001;483-487
24. Steinberg M.H. DNA diagnosis for the detection of sickle hemoglobinopathies. Am. J. Hematol. 43:1993;110-115
25. Zeng Y.T., Huang S.Z., Ren Z.R., Li H.J. Identification of Hb D-Punjab gene: application in the study of abnormal hemoglobins. Am. J. Hum. Genet. 44:1989;886-889