Clinical features and molecular analysis in Thai patients with HbH disease

Annals of Hematology

Volumn 88, Issue 12, 2009, Pages 1185-1192

  Laosombat, Vichai ^a   Viprakasit, Vip ^b   Chotsampancharoen, Thirachit ^a   Wongchanchailert, Malai ^a   Khodchawan, Sudarat ^a   Chinchang, Worawut ^b   Sattayasevana, Benjamas ^a  

^a PRINCE OF SONGKLA UNIVERSITY   (Thailand)

^b MAHIDOL UNIVERSITY   (Thailand)

Author keywords

thalassemia; Children; HbH disease; Molecular defect; Newborn; Thai

Indexed keywords

FERRITIN; HEMOGLOBIN BART; HEMOGLOBIN H; HEMOGLOBIN VARIANT; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; AGE DISTRIBUTION; ALPHA THALASSEMIA; ARTICLE; BLOOD TRANSFUSION; CHILD; CLINICAL FEATURE; CONTROLLED STUDY; DISEASE SEVERITY; ERYTHROCYTE PARAMETERS; FACE DYSMORPHIA; FEMALE; FERRITIN BLOOD LEVEL; GENE DELETION; GENOTYPE PHENOTYPE CORRELATION; GROWTH RETARDATION; HEMOGLOBIN BLOOD LEVEL; HEMOGLOBIN H DISEASE; HEMOGLOBINOPATHY; HEMOLYTIC ANEMIA; HEPATOSPLENOMEGALY; HUMAN; INFANT; MAJOR CLINICAL STUDY; MALE; MEAN CORPUSCULAR HEMOGLOBIN; MEAN CORPUSCULAR VOLUME; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; SOUTHEAST ASIA; THAILAND;

ADOLESCENT; ALPHA-GLOBINS; ALPHA-THALASSEMIA; ASIAN CONTINENTAL ANCESTRY GROUP; CHILD; ERYTHROCYTES; FERRITINS; GENOTYPE; HEMOGLOBIN H; HUMANS; INFANT, NEWBORN; PHENOTYPE; RETROSPECTIVE STUDIES; SEQUENCE DELETION; THAILAND;

EID: 70350287853     PISSN: 09395555     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00277-009-0743-5     Document Type: Article

References (43)

1. Weatherall DJ, Clegg JB (2001) The thalassaemia syndromes, 4th edn. Blackwell Science, Oxford
2. Na-Nakorn S, Wasi P (1970) Alpha-thalassemia in Northern Thailand. Am J Hum Genet 22(6):645-651
3. Laosombat V, Panich V, Surapruk P, Pornpatkul M (1979) Alpha thalassemia in southern Thailand. In: Third Asian Congress of Pediatrics, Bangkok, Thailand, p 71
4. Pansateinkul B, A Group of Thai Hematologists (1990) Current situation and strategic plan for prevention and control of blood diseases in Thailand 1989-1990, 1st edn. Num-Aksorn-Karnprim, Bangkok
5. Higgs DR, Bowden DK (2001) Clinical and laboratory features of the α-thalassemia syndromes, 1st edn. Cambridge University Press, Cambridge
6. Wickramasinghe SN, Fucharoen S, Wasi P (1986) Studies of erythropoietic cells in heterozygotes and homozygotes for haemoglobin Constant Spring and in heterozygotes for both haemoglobin Constant Spring and alpha-thalassaemia 1 trait: Extent of globin chain precipitation and cell cycle distribution. Clin Lab Haematol 8(3):187-198
7. Yuan J, Bunyaratvej A, Fucharoen S, Fung C, Shinar E, Schrier SL (1995) The instability of the membrane skeleton in thalassemic red blood cells. Blood 86(10):3945-3950
8. Chui DH, Fucharoen S, Chan V (2003) Hemoglobin H disease: Not necessarily a benign disorder. Blood 101(3):791-800. doi: 10.1182/ blood-2002-07-1975
9. Higgs DR (2001) Molecular mechanisms of α-thalassemia, 1st edn. Cambridge University Press, Cambridge
10. Fischel-Ghodsian N, Vickers MA, Seip M, Winichagoon P, Higgs DR (1988) Characterization of two deletions that remove the entire human zeta-alpha globin gene complex (- -THAI and - -FIL). Br J Haematol 70(2):233-238. doi: 10.1111/j.1365-2141.1988.tb02469.x
11. Galanello R, Paglietti E, Giagu L, Melis MA, Scalas MT, Cao A (1983) Phenotypic manifestations of heterozygous non-deletion alpha-thalassaemia (alpha alpha/(alpha alpha) th) in Sardinians. Br J Haematol 55(4):711-713. doi: 10.1111/j.1365-2141.1983.tb02855.x
12. Chen FE, Ooi C, Ha SY et al (2000) Genetic and clinical features of hemoglobin H disease in Chinese patients. N Engl J Med 343(8):544-550. doi: 10.1056/NEJM200008243430804
13. Kanavakis E, Papassotiriou I, Karagiorga M et al (2000) Phenotypic and molecular diversity of haemoglobin H disease: A Greek experience. Br J Haematol 111(3):915-923. doi: 10.1046/j.1365-2141.2000.02448.x
14. Origa R, Sollaino MC, Giagu N et al (2007) Clinical and molecular analysis of haemoglobin H disease in Sardinia: Haematological, obstetric and cardiac aspects in patients with different genotypes. Br J Haematol 136(2):326-332. doi: 10.1111/j.1365-2141.2006.06423.x
15. Working Group WHO (1986) Use and interpretation of anthropometric indicators of nutritional status. Bull World Health Organ 643:929-941
16. Papassotiriou I, Traeger-Synodinos J, Vlachou C et al (1999) Rapid and accurate quantitation of Hb Bart's and Hb H using weak cation exchange high performance liquid chromatography: Correlation with the alpha-thalassemia genotype. Hemoglobin 23(3):203-211. doi: 10.3109/ 03630269909005700
17. Chong SS, Boehm CD, Higgs DR, Cutting GR (2000) Single-tube multiplex-PCR screen for common deletional determinants of alpha-thalassemia. Blood 95(1):360-362
18. Viprakasit V, Tanphaichitr VS, Pung-Amritt P et al (2002) Clinical phenotypes and molecular characterization of Hb H-Pakse disease. Haematologica 87(2):117-125
19. Laosombat V, Wiriyasateinkul A, Chrangtrakul Y, Fucharoen S (2003) Rapid detection of an a thalassemia variant (Hb Quong Sze). Haematologica 88(7):ELT27
20. 0-thalassemia (-SEA), resulting in Hb H disease in a Thai patient. Hemoglobin 25(4):383-389. doi: 10.1081/HEM-100107875
21. Eng B, Patterson M, Borys S, Chui DH, Waye JS (2000) PCR-based diagnosis of the Filipino (-(FIL)) and Thai (-(THAI)) alpha-thalassemia-1 deletions. Am J Hematol 63(1):54-56. doi: 10.1002/ (SICI)1096-8652(200001)63:1<54::AID-AJH12>3.0.CO;2-B
22. Charoenkwan P, Taweephon R, Sae-Tung R, Thanarattanakorn P, Sanguansermsri T (2005) Molecular and clinical features of Hb H disease in northern Thailand. Hemoglobin 29(2):133-140. doi: 10.1081/ HEM-200058583
23. Baysal E, Kleanthous M, Bozkurt G et al (1995) Alpha-thalassaemia in the population of Cyprus. Br J Haematol 89(3):496-499. doi: 10.1111/ j.1365-2141.1995.tb08354.x
24. Waye JS, Eng B, Patterson M et al (2001) Hemoglobin H (Hb H) disease in Canada: Molecular diagnosis and review of 116 cases. Am J Hematol 68(1):11-15. doi: 10.1002/ajh.1142
25. Chan AY, So CC, Ma ES, Chan LC (2007) A laboratory strategy for genotyping haemoglobin H disease in the Chinese. J Clin Pathol 60(8):931-934. doi: 10.1136/jcp.2006.042242
26. Lorey F, Cunningham G, Vichinsky EP et al (2001) Universal newborn screening for Hb H disease in California. Genet Test 5(2):93-100. doi: 10.1089/109065701753145538
27. Sanchaisuriya K, Fucharoen G, Fucharoen S (2002) Hb Pakse [(alpha2) codon 142 (TAA->TAT or Term->Tyr) J in Thai patients with EAbart's disease and Hb H disease. Hemoglobin 26(3):227-235. doi: 10.1081/ HEM-120015026
28. Laosombat V, Dissaneevate S, Wongchanchailert M, Satayasevanaa B (2005) Neonatal anemia associated with Southeast Asian ovalocytosis. Int J Hematol 82(3):201-205. doi: 10.1532/IJH97.A20505
29. Adekile AD, McKie KM, Adeodu OO et al (1993) Spleen in sickle cell anemia: Comparative studies of Nigerian and U.S. patients. Am J Hematol 42(3):316-321. doi: 10.1002/ajh.2830420313
30. Wasi P, Sookanek M, Pootrakul S, Na-Nakorn S, Suingdumrong A (1967) Haemoglobin E and alpha-Thalassaemia. BMJ 4(5570):29-32
31. Liu TC, Chiou SS, Lin SF et al (1994) Molecular basis and hematological characterization of Hb H disease in southeast Asia. Am J Hematol 45(4):293-297. doi: 10.1002/ajh.2830450405
32. Liebhaber SA, Cash FE, Ballas SK (1986) Human alpha-globin gene expression. The dominant role of the alpha 2-locus in mRNA and protein synthesis. J Biol Chem 261(32):15327-15333
33. Ganczakowski M, Bowden DK, Maitland K et al (1995) Thalassaemia in Vanuatu, south-west Pacific: Frequency and haematological phenotypes of young children. Br J Haematol 89(3):485-495. doi: 10.1111/ j.1365-2141.1995.tb08353.x
34. Chan VV, Chan TK, Todd D (1988) Different forms of Hb H disease in the Chinese. Hemoglobin 12(5-6):499-507. doi: 10.3109/03630268808991638
35. Goossens M, Lee KY, Liebhaber SA, Kan YW (1982) Globin structural mutant alpha 125Leu leads to Pro is a novel cause of alpha-thalassaemia. Nature 296(5860):864-865. doi: 10.1038/296864a0
36. Chandrcharoensin-Wilde C, Chairoongruang S, Jitnuson P, Fucharoen S, Vathanopas V (1988) Gallstones in thalassemia. Birth Defects Orig Artic Ser 23(5B):263-267
37. Lin CK, Gau JP, Hsu HC, Jiang ML (1990) Efficacy of a modified improved technique for detecting red cell haemoglobin H inclusions. Clin Lab Haematol 12(4):409-415
38. Galanello R, Piras S, Barella S et al (2001) Cholelithiasis and Gilbert's syndrome in homozygous beta-thalassaemia. Br J Haematol 115(4):926-928. doi: 10.1046/j.1365-2141.2001.03200.x
39. Premawardhena A, Fisher CA, Fathiu F et al (2001) Genetic determinants of jaundice and gallstones in haemoglobin E beta thalassaemia. Lancet 357(9272):1945-1946. doi: 10.1016/S0140-6736(00)05082-0
40. Fucharoen S, Winichagoon P, Pootrakul P, Piankijagum A, Wasi P (1987) Differences between two types of Hb H disease, alpha-thalassemia 1/ alpha-thalassemia 2 and alpha-thalassemia 1/Hb Constant Spring. Birth Defects Orig Artic Ser 23(5A):309-315
41. Papassotiriou I, Traeger-Synodinos J, Kanavakis E, Karagiorga M, Stamoulakatou A, Kattamis C (1998) Erythroid marrow activity and hemoglobin H levels in hemoglobin H disease. J Pediatr Hematol Oncol 20(6):539-544. doi: 10.1097/00043426-199811000-00006
42. Chim CS, Chan V, Todd D (1998) Hemosiderosis with diabetes mellitus in untransfused Hemoglobin H disease. Am J Hematol 57(2):160-163. doi: 10.1002/(SICI)1096-8652(199802)57:2<160::AID-AJH12>3.0.CO;2-G
43. Galanello R, Melis MA, Paglietti E, Cornacchia G, de Virgiliis S, Cao A (1983) Serum ferritin levels in hemoglobin H disease. Acta Haematol 69(1):56-58. doi: 10.1159/000206840