Interaction of hemoglobin E and several forms of α-thalassemia in Cambodian families

Haematologica

Volumn 88, Issue 10, 2003, Pages 1092-1098

  Fucharoen, Supan ^a   Sanchaisuriya, Kanokwan ^a   Fucharoen, Goonnapa ^a   Panyasai, Sitthichai ^a   Devenish, Robyn ^b   Luy, Lyda ^b  

^a KHON KAEN UNIVERSITY   (Thailand)

^b NONE

Author keywords

Cambodia; Hemoglobin Constant Spring; Hemoglobin E; Hemoglobin Pakse'; Thalassemia syndrome

Indexed keywords

ALPHA GLOBIN; BETA GLOBIN; FERRITIN; GENOMIC DNA; HEMOGLOBIN E; HEMOGLOBIN PAKSE; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; ALPHA THALASSEMIA; ARTICLE; CAMBODIA; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; DIFFERENTIAL DIAGNOSIS; DNA DETERMINATION; DNA SEQUENCE; FEMALE; GENOTYPE; HEMOGLOBIN CONSTANT SPRING; HEMOGLOBINOPATHY; HETEROZYGOSITY; HUMAN; HUMAN CELL; MALE; MASS SCREENING; MEAN CORPUSCULAR HEMOGLOBIN; MEAN CORPUSCULAR VOLUME; PHENOTYPE; POLYMERASE CHAIN REACTION; SOUTHEAST ASIA;

ADOLESCENT; ADULT; ALLELES; ALPHA-THALASSEMIA; CAMBODIA; CHILD; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; FEMALE; HEMOGLOBIN E; HEMOGLOBINS, ABNORMAL; HUMANS; MALE; MIDDLE AGED; MUTATION; PEDIGREE; POLYMERASE CHAIN REACTION; PROTEIN INTERACTION MAPPING; PROTEIN ISOFORMS;

EID: 0242330781     PISSN: 03906078     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (33)

1. Weatherall DJ, Clegg JB. Inherited haemoglobin disorders: an increasing global health problem. Bull WHO 2001;79:704-12.
2. Fucharoen S, Winichagoon P. Hemoglobinopathies in Southeast Asia. Hemoglobin 1987;11:16-22.
3. th Asia-Pacific Conference on Human Genetics, Pattaya, Cholburi, Thailand, October 27-30, 2002.
4. Waye JS, Eng B, Patterson M, Chui DHK, Olivieli 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;83:3418-20.
5. Anaoxr S, Garry PJ, Standefer JC. Solid-phase enzyme immunoassay for serum ferritin. Clin Chem 1979;25:1426-31.
6. Weatherall DJ, Clegg JB. The thalassemia syndromes. 4th edition. Blackwell Science, Oxford 2001.
7. Panyasai S, Sringam P, Fucharoen G, Sanchaisuriya K, Fucharoen S, A simplified screening for α-thalassemia 1 (SEA type) using a combination of a modified osmotic fragility test and a direct PCR on whole blood cell lysates. Acta Haematol 2002;108:74-8.
8. Fucharoen S, Fucharoen G, Sanchaisuriya K, Pengjam Y. Molecular analysis of a Thai β-thalassemia heterozygote with normal haemoglobin A2 level: implication for population screening. Ann Clin Biochem 2002;39:44-9.
9. Fucharoen G, Fucharoen S. Rapid and simultaneous non-radioactive method for detecting α-thalassemia 1 (SEA-type) and Hb Constant Spring genes. Eur J Haematol 1994;53:186-7.
10. Fucharoen S, Fucharoen G, Ratanasiri T, Jetsrisuparp A, Fukumaki Y. A simple non-radioactive assay for hemoglobin E gene in prenatal diagnosis. Clin Chim Acta 1994;229:197-203.
11. Fucharoen S, Fucharoen G, Fukumaki Y. Simple non-radioactive method for detecting hemoglobin Constant Spring gene. Lancet 1990;335:1527.
12. Sanchaisuriya K, Fucharoen G, Fucharoen S. Hb Pakse' [(α2) codon 142 (TAA-TAT) or Term-Tyr)] in Thai patients with EABart's disease and Hb H disease. Hemoglobin 2002;26:227-35.
13. Viprakasit V, Tanphaichitr VS, Pung-Amarit P, Petrarat S, Suwanthol L, Fischer C, et al. Clinical phenotypes and molecular characterization of Hb H-Pakse' disease. Haematologica 2002;87:117-25.
14. Hurst D, Tittle B, Kleman KM, Emburry SH, Lubin BH. Anemia and hemoglobinopathies in Southeast Asian refugee children. J Pediatr 1983;102:692-7.
15. +-thalassemia in Southeast Asia refugees. Ann Genet 1988;31:201-4.
16. Sanguansermsri T, Flatz G, Flatz SD. Distribution of hemoglobin E and β-thalassemia in Kampuchea (Cambodia). Hemoglobin 1987; 11:481-6.
17. Hundrieser J, Sanguansermsri T, Ratz SD, Kuhnau W, Pape M, Papp T, et al. Frequency of deletional types of α-thalassemia in Kampuchea. Ann Genet 1988;31:205-10.
18. Simkins H, Hill AVS, Derry S, Clegg JB, Weatherall DJ. Interaction of five globin gene abnormalities in a Cambodian families. Br J Haematol 1986;63:7-15.
19. Pootrakul P, Winichagoon P, Fucharoen S, Pravatmuang P, Piankijagum A, Wasi P. Homozygous hemoglobin Constant Spring: a need for revision of concept. Hum Genet 1981;59:250-5.
20. Krishnamurti L, Little JA. Homozygous hemoglobin Constant Spring with normal electrophoresis, a possible cause for underdiagnosis. Ann NY Acad Sci 1998;850:415-9.
21. 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;89:1762-9.
22. Schrier SL, Rachmilewitz E, Mohandas N. Cellular and membrane properties of α and β thalassemic erythrocytes are different: implication for differences in clinical manifestations. Blood 1989;74:2194-202.
23. Bunyaratvej A, Fucharoen S, Greenbaum A, Mohandas N. Hydration of red cells in α and β thalassemias differs, a useful approach to distinguish between these red cell phenotypes. Am J Clin Pathol 1994;102:217-22.
24. Sanchaisuriya K, Fucharoen G, Sae-ung N, Baisungneon R, Jetsrisuparb A, Fucharoen S. Molecular and hematological characterization of Hb E heterozygote with α-thalassemia determinant. Southeast Asian J Trop Med Public Health 1997;28 Suppl 3:227-35.
25. Genesan J, Lie-Injo E, Ng TS, George R. Interaction of haemoglobin E with α-thalassemia and hemoglobin Constant Spring. Acta Haematol 1977;57:109-15.
26. Honig GR, Adams III JG. Human hemoglobin genetics. Springer-Verlag Wien New York, 1986. p. 191-3.
27. E chain containing tetramers. Hemoglobin 1997;21:227-36.
28. Wong SC, Ali MAM. Hemoglobin E disease: hematological, analytical, and biosynthetic studies in homozygotes and double heterozygotes for α-thalassemia. Am J Hematol 1982;13:15-21.
29. Harteveld CL, Traeger-Synodinos J, Ragusa A, Fichera M, Kanavakis E, Kattamis C, et al. Different geographic origins of Hb Constant Spring [α2 codon 142 TAA→CAA]. Haematologica 2001;86:36-8.
30. Hsia YE, Ford CA, Shapiro U, Hunt JA, Ching NSP. Molecular screening for haemoglobin Constant Spring. Lancet 1989;1:988-91.
31. Kropp GL, Fucharoen S, Embury SH. Selective enzymatic amplification of α2-globin DNA for detection of the hemoglobin Constant Spring mutation. Blood 1989;73:1987-92.
32. 2-globin gene. Am J Hematol 1991;38:277-80.
33. 2 globin gene. Blood 1993;82:3503-4