Hemoglobin H disease: Not necessarily a benign disorder

Blood

Volumn 101, Issue 3, 2003, Pages 791-800

  Chui, David H K ^a,b,c,d   Fucharoen, Suthat ^a,b,c   Chan, Vivian ^a,b,c  

^a MCMASTER UNIVERSITY   (Canada)

^b MAHIDOL UNIVERSITY   (Thailand)

^c UNIVERSITY OF HONG KONG   (Hong Kong)

^d BOSTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ALPHA GLOBIN; FERRITIN; FOLIC ACID; GAMMA GLOBIN; HEMOGLOBIN F; HEMOGLOBIN H; IRON CHELATING AGENT;

ALPHA THALASSEMIA; ANEMIA; BETA THALASSEMIA; BLOOD DISEASE; BLOOD TRANSFUSION; CHOLELITHIASIS; CLINICAL FEATURE; COMORBIDITY; DIFFERENTIAL DIAGNOSIS; ETHNOLOGY; FETUS HYDROPS; GENE DELETION; GENE MUTATION; GENETIC COUNSELING; GENETIC DISORDER; GENETIC EPIDEMIOLOGY; GENOTYPE; GLUCOSE 6 PHOSPHATE DEHYDROGENASE DEFICIENCY; GROWTH RETARDATION; HEMOGLOBIN DETERMINATION; HEMOGLOBIN H DISEASE; HEPATOSPLENOMEGALY; HUMAN; IRON DEFICIENCY ANEMIA; IRON OVERLOAD; MENTAL DEFICIENCY; NEURAL TUBE DEFECT; PATHOGENESIS; PATHOPHYSIOLOGY; PHENOTYPE; PRIORITY JOURNAL; REVIEW; SPLENECTOMY; SPONTANEOUS ABORTION; VITAMIN SUPPLEMENTATION;

EID: 0037305250     PISSN: 00064971     EISSN: None     Source Type: Journal    
DOI: 10.1182/blood-2002-07-1975     Document Type: Review

References (143)

1. Forget BG. Molecular genetics of the human globin genes. In: Steinberg MH, Forget BG, Higgs DR, Nagel RL, eds. Disorders of Hemoglobin; Genetics, Pathophysiology, and Clinical Management. Cambridge, United Kingdom: Cambridge University Press; 2001:117-130.
2. Higgs DR. Molecular mechanisms of α-thalassemia. In: Steinberg MH, Forget BG, Higgs DR, Nagel RL, eds. Disorders of Hemoglobin; Genetics, Pathophysiology, and Clinical Management. Cambridge, United Kingdom: Cambridge University Press; 2001:405-430.
3. Higgs DR, Bowden DK. Clinical and laboratory features of the α-thalassemia syndromes. In: Steinberg MH, Forget BG, Higgs DR, Nagel RL, eds. Disorders of Hemoglobin; Genetics, Pathophysiology, and Clinical Management. Cambridge, United Kingdom: Cambridge University Press; 2001:431-469.
4. Liang ST, Wong VC, So WW, Ma HK, Chan V, Todd D. Homozygous α-thalassaemia: clinical presentation, diagnosis and management. A review of 46 cases. Br J Obstet Gynaecol. 1985;92:680-684.
5. Chui DHK, Waye JS. Hydrops fetalls caused by α-thalassemia: an emerging health care problem. Blood. 1998;91:2213-2222.
6. Dozy AM, Kan YW, Embury SH, et al. α-Globin gene organization in blacks precludes the severe form of α-thalassaemia. Nature. 1979;280:605-607.
7. Weatherall DJ, Clegg JB. Inherited haemoglobin disorders: an increasing global health problem. Bull World Health Organ. 2001;79:704-712.
8. Liebhaber SA, Cash FE, Ballas SK. Human α-globin gene expression. The dominant role of the α2-locus in mRNA and protein synthesis. J Biol Chem. 1986;261:15327-15333.
9. Waye JS, Eng B, Patterson M, Chui DHK, Olivieri NF. Identification of a novel termination codon mutation [TAA→TAT, Ter→Tyr] in the α2 globin gene of a Laotian girl with HbH disease [letter]. Blood 1994;83:3418-3420.
10. Viprakasit V, Tanphaichitr VS, Pung-Amritt P, et al. Clinical phenotypes and molecular characterization of Hb H-Pakse disease. Haematologica. 2002;87:117-125.
11. Kanavakis E, Papassotiriou I, Karagiorga M, et al. Phenotypic and molecular diversity of haemoglobin H disease: a Greek experience. Br J Haematol. 2000;111:915-923.
12. Hundrieser J, Sanguansermsri T, Laig M, Pape M, Kuhnau W, Flatz G. Direct demonstration of the Hb Suan-Dok mutation in the α2-globin gene by restriction analysis with Smal. Hemoglobin. 1990;14:69-77.
13. Liebhaber SA, Kan YW. Alpha-thalassemia caused by an unstable α-globin mutant. J Clin Invest 1983;71:461-466.
14. Viprakasit V, Pung-Amrit P, Petrarat S, Veerakul G, Higgs DR, Tanphaichitr VS. A novel α1-gene mutation causes severe α-thalassemia phenotype [abstract]. Presented at the 8th International Conference on Thalassemia and the Hemoglobinopathies; Athens, Greece; October 18-21, 2001;131-132.
15. Wasi P, Na-Nakorn S, Pootrakul S-N. The α thalassaemias. Clinics in Haematology. 1974;3:383-410.
16. Aksoy M, Kutlar A, Kutlar F, Harano T, Chen SS, Huisman TH. Hemoglobin H disease in two Turkish females and one Iranian newborn. Hemoglobin. 1985;9:373-384.
17. Di Rienzo A, Novelletto A, Aliquo MC, et al. Molecular basis for Hb H disease in Italy: geographical distribution of deletional and nondeletional α-thalassemia haplotypes. Am J Hum Genet. 1986;39:631-639.
18. 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. 1988;23(5A):309-315.
19. Chan V, Chan TK, Todd D. Different forms of Hb H disease in the Chinese. Hemoglobin. 1988;12:499-507.
20. Kattamis C, Tzotzos S, Kanavakis E, Synodinos J, Metaxotou-Mavrommati A. Correlation of clinical phenotype to genotype in haemoglobin H disease. Lancet. 1988;1(8583):442-444.
21. Peng HW, Han SH, Chow TY, Ho CH, Ching KN, Chiang BN. The molecular basis of Hb H disease in Taiwan. Hum Genet. 1988;78:137-139.
22. Hsu HC, Wang CC, Peng HW, Ho CH, Lin CK. Hemoglobin H disease - ten years' experience. Chin Med J (Taipei). 1990;45:34-38.
23. Hattori Y, Morishita M, Yamashiro Y, et al. Three Japanese families with Hb H disease: gene analyses and their characterizations. Hemoglobin. 1990;14:559-567.
24. Cao A, Rosatelli C, Pirastu M, Galanello R. Thalassemias in Sardinia: molecular pathology, phenotype-genotype correlation, and prevention. Am J Pediatr Hematol Oncol. 1991;13:179-188.
25. Galanello R, Aru B, Dess XC, et al. Hb H disease in Sardinia: molecular, hematological and clinical aspects. Acta Haematol. 1992;88:1-6.
26. Shalmon L, Kirschmann C, Zaizov R. Anew deletional α-thalassemia detected in Yemenites with hemoglobin H disease. Am J Hematol. 1994;45:201-204.
27. Liu T-C, Chiou S-S, Lin S-F, et al. Molecular basis and hematological characterization of Hb H disease in Southeast Asia. Am J Hematol. 1994;45:293-297.
28. Baysal E, Kleanthous M, Bozkurt G, et al. α-Thalassaemia in the population of Cyprus. Br J Haematol. 1995;89:496-499.
29. Oner C, Gurgey A, Oner R, et al. The molecular basis of Hb H disease in Turkey. Hemoglobin. 1997;21:41-51.
30. Mirabile E, Samperi P, Di Cataldo A, Poll A, La Spina M, Schilirb G. Phenotype-genotype correlation in Sicilian patients with Hb H. Eur J Haematol. 2000;65:306-309.
31. Chen FE, Ooi C, Ha SY, et al. Genetic and clinical features of hemoglobin H disease in Chinese patients. N Engl J Med. 2000;343:544-550.
32. SEA) α-thalassemia deletion and uncommon non-deletional α-globin gene mutations in Chinese patients. Haematologica. 2001;86:539-540.
33. Waye JS, Eng B, Patterson M, et al. Hemoglobin H (Hb H) disease in Canada: molecular diagnosis and review of 116 cases. Am J Hematol. 2001;68:11-15.
34. Morle F, Francina A, Ducrocq R, et al. A new α chain variant Hb Sallanches [α2 104(G11) Cys→Tyr] associated with HbH disease in one homozygous patient. Br J Haematol. 1995;91:608-611.
35. Khan SN, Butt FI, Riazuddin S, Galanello R. Hb Sallanches [α104(G11)Cys±Tyr]: a rare α2-globin chain variant found in the homozygous state in three members of a Pakistani family. Hemoglobin. 2000;24:31-35.
36. Waye JS, Walker L, Chui, DHK, Lafferty J, Kirby M. Homozygous Hb Sallanches [α104(G11)Cys±Tyr] in a Pakistani child with Hb H disease. Hemoglobin. 2000;24:355-357.
37. Fei Y-J, Oner R, Bozkurt G, et al. Hb H disease caused by a homozygosity for the AATAAA± AATAAG mutation in the polyadenylation site of the α2-globin gene: haematological observations. Acta Haematol. 1992;88:82-85.
38. Winichagoon P, Higgs DR, Goodbourn SE, Clegg JB, Weatherall DJ, Wasi P. The molecular basis of alpha-thalassaemia in Thailand. EMBO J. 1984;3:1813-1818.
39. Lau YL, Chan LC, Chan YY, et al. Prevalence and genotypes of α- and β-thalassemia carriers in Hong Kong - implications for population screening. N Engl J Med. 1997;336:1298-1301.
40. Angastiniotis M, Modell B, Englezos P, Boulyienkov V. Prevention and control of haemoglobinopathies. Bull World Health Organ. 1995;73:375-386.
41. Lorey F, Cunningham G, Vichinsky EP, et al. Universal newborn screening for Hb H disease in California. Genet Test. 2001;5:93-100.
42. Yuan J, Bunyaratvej A, Fucharoen S, Fung C, Shinar E, Schrier SL. The instability of the membrane skeleton in thalassemic red blood cells. Blood. 1995;86:3945-3950.
43. Schrier SL, Rachmilewitz E, Mohandas N. Cellular and membrane properties of alpha and beta thalassemic erythrocytes are different: implication for differences in clinical manifestations. Blood. 1989;74:2194-2202.
44. Schrier SL, Bunyaratvej A, Khuhapinant A, et al. The unusual pathobiology of hemoglobin Constant Spring red blood cells. Blood. 1997;89:1762-1769.
45. Liebhaber SA, Schrier SL. Pathophysiology of α thalassemia. In: Steinberg MH, Forget BG, Higgs DR, Nagel RL, eds. Disorders of Hemoglobin; Genetics, Pathophysiology, and Clinical Management. Cambridge, United Kingdom: Cambridge University Press; 2001:391-404.
46. Winterbourn CC, Williamson D, Vissers MCM, Carrell RW. Unstable haemoglobin haemolytic crises: contributions of pyrexia and neutrophil oxidants. Br J Haematol. 1981;49:111-116.
47. Chinprasertsuk S, Piankiuagum A, Wasi P. In vivo induction of intraerythrocytic inclusion bodies in hemoglobin H disease: an electron microscopic study. Birth Defects Orig Artic Ser. 1988;23(5A):317-326.
48. Chinprasertsuk S, Wanachiwanawin W, Piankijagum A. Effect of pyrexia in the formation of intraerythrocytic inclusion bodies and vacuoles in haemolytic crisis of haemoglobin H disease. Eur J Haematol. 1994;52:87-91.
49. Boas FE, Forman L, Beutler E. Phosphatidylserine exposure and red cell viability in red cell aging and in hemolytic anemia. Proc Natl Acad Sci U S A. 1998;95:3077-3081.
50. Kuypers FA, Yuan J, Lewis RA, et al. Membrane phospholipid asymmetry in human thalassemia. Blood. 1998;91:3044-3051.
51. Pootrakul P, Sirankapracha P, Hemsorach S, et al. A correlation of erythrokinetics, ineffective erythropoiesis, and erythroid precursor apoptosis in Thai patients with thalassemia. Blood. 2000;96:2606-2612.
52. Schrier SL. Pathophysiology of thalassemia. Curr Opin Hematol. 2002;9:123-126.
53. Rigas DA, Koler RD. Decreased erythrocyte survival in hemoglobin H disease as a result of the abnormal properties in hemoglobin H: the benefit of splenectomy. Blood. 1961;18:1-17.
54. 14-labeled hemoglobins in patients with H-thalassemia, with observations on radiochromate binding to the hemoglobins during red cell survival. J Clin Invest. 1965;44:315-325.
55. 32P] di-isopropyl phosphofluoridate. Br J Hamaetol. 1972;23:621-629.
56. Papassotirious I, Traeger-Syndinos J, Kanavakis E, Karagiorga M, Stamoulakatou A, Kattamis C. Erythroid marrow activity and hemoglobin H levels in hemoglobin H disease. J Pediatr Hematol Oncol. 1998;20:539-544.
57. George E, Wong HB, Jamaluddin M, Huisman TH. Peripheral haemolysis, lipid peroxidation, iron status, and vitamin E in haemoglobin H syndromes in West Malaysia. Singapore Med J. 1993;34:241-244.
58. Weatherall DJ. Phenotype-genotype relationships in monogenic disease: lessons from the thalassaemias. Nat Rev Genet. 2001;2:245-255.
59. Chui DHK, Dover GJ. Sickle cell disease: no longer a single gene disorder. Curr Opin Pediatr. 2001;13:22-27.
60. Bunn HF, Forget BG. Hemoglobin: Molecular, Genetic and Clinical Aspects. Philadelphia, PA: Saunders; 1986.
61. Tso SC, Loh TT, Todd D. Iron overload in patients with haemoglobin H disease. Scand J Haematol. 1984;32:391-394.
62. Hsu H-C, Lin C-K, Tsay S-H, et al. Iron overload in Chinese patients with hemoglobin H disease. Am J Hematol. 1990;34:287-290.
63. Lin CK, Peng HW, Ho CH, Yung CH. Iron overload in untransfused patients with hemoglobin H disease. Acta Haematol. 1990;83:137-139.
64. Lin CK, Lin JS, Jiang ML. Iron absorption is increased in hemoglobin H diseases [letter]. Am J Hematol. 1992;40:74-75.
65. Ooi GC, Chen FE, Chan KN, et al. Qualitative and quantitative magnetic resonance imaging in Haemoglobin H disease: screening for iron overload. Clin Radiol. 1999;54;:98-102.
66. Chim CS, Chan V, Todd D. Hemosiderosis with diabetes mellitus in untransfused hemoglobin H disease. Am J Hematol. 1998;57:160-163.
67. Galanello R, Melis MA, Paglietti E, Cornacchia G, de Virgiliis S, Cao A. Serum ferritin levels in hemoglobin H disease. Acta Haematol. 1983;69:56-58.
68. Chandrcharoensin-Wilde C, Chairoongruang S, Jitnuson P, Fucharoen S, Vathanopas V. Gallstones in thalassemia. Birth Defects Orig Artic Ser. 1988;23(5B):263-267.
69. Galanello R, Perseu L, Melis MA, et al. Hyperbilirubinaemia in heterozygous beta-thalassaemia is related to co-inherited Gilbert's syndrome. Br J Haematol. 1997;99:433-436.
70. Miraglia del Giudice E, Perrotta S, Nobili B, Specchia C, d'Urzo G, Iolascon A. Conheritance of Gilbert's syndrome increases the risk for developing gallstones in patients with hereditary spherocytosis. Blood. 1999;94:2259-2262.
71. Passon RG, Howard TA, Zimmerman SA, Schultz WH, Ware RE. Influence of bilirubin uridine diphosphate-glucuronosyltransferase 1A promoter polymorphisms on serum bilirubin levels and cholelithiasis in children with sickle cell anemia. J Pediatr Hematol Oncol. 2001;23:448-451.
72. Gallanello R, Piras S, Barella S, et al. Cholelithiasis and Gilbert's syndrome in homozygous β-thalassaemia. Br J Haematol. 2001;115:926-928.
73. Premawardhena A, Fisher CA, Fathiu F, et al. Genetic determinants of jaundice and gallstones in haemoglobin E β thalassemia [letter]. Lancet. 2001;357:1945-1946.
74. McKie KM, Gu L-H, Huisman THJ. Postnatal changes in the quantities of globin chains and hemoglobin types in two babies with Hb H disease. Am J Hematol. 1993;42:86-90.
75. Vaeusorn O, Fucharoen S, Wasi P. A study of thalassemia associated with pregnancy. Birth Defects Orig Artic Ser. 1988;23(5B):295-299.
76. White JM, Jones RW. Management of pregnancy in a woman with Hb H disease. Br Med J. 1969;iv:473-474.
77. Ong HC, White JC, Sinnathuray TA. Haemoglobin H disease and pregnancy in a Malaysian woman. Acta Haematol. 1977;58:229-233.
78. Chan V, Chan TK, Liang ST, Ghosh A, Kan YW, Todd D. Hydrops fetalis due to an unusual form of Hb H disease. Blood. 1985;66:224-228.
79. Lorey F, Charoenkwan P, Witkowska HE, et al. Hb H hydrops foetalis syndrome: a case report and review of literature. Br J Haematol. 2001;115:72-78.
80. Chan V, Chan VW-Y, Tang M, Lau K, Todd D, Chan TK. Molecular defects in Hb H hydrops fetalis. Br J Haematol. 1997;96:224-228.
81. McBride KL, Snow K, Kubik KS, et al. Hb Dartmouth [α66(E15)Leu→Pro (α2) (CTG→CCG)]: a novel α2-globin gene mutation associated with severe neonatal anemia when inherited in trans with Southeast Asian α-thalassemia-1. Hemoglobin. 2001;25:375-382.
82. Thein SL. Is it dominantly inherited β-thalassaemia or just a β-chain variant that is highly unstable? BrJ Haematol. 1999;107:12-21.
83. SEA) α-globin gene deletion and α2-codon 30 (AGAG) mutation: a family study. Clin Lab Haematol. 2001;23:325-327.
84. TSaudiα). Br J Haematol. 2002;117:759-762.
85. Matthay KK, Mentzer WC, Dozy AM, Kan YW, Bainton DF. Modification of hemoglobin H disease by sickle trait. J Clin Invest. 1979;64:1024-1032.
86. Steinberg MH, Coleman MB, Adams JG III, Hartmann RC, Saba H, Anagnou NP. A new gene deletion in the α-like globin gene cluster as the molecular basis for the rare α-thalassemia-1 (/αα) in Blacks: Hb H disease in sickle cell trait. Blood. 1986;67:469-473.
87. 3.7 deletions with HbC heterozygosity. Br J Haematol. 1997;96:801-805.
88. Fucharoen S, Winichagoon P, Thonglairuam V. β-thalassemia associated with α-thalassemia in Thailand. Hemoglobin. 1988;12:581-592.
89. Fucharoen S, Winichagoon P, Prayoonwiwat W, Pootrakul P, Piankiuagum A, Wasi P. Clinical and hematologic manifestations of AE Bart disease. Birth Defects Orig Artic Ser. 1988;23(5A):327-332.
90. Bunn, HF. Subunit assembly of hemoglobin: an important determinant of hematologic phenotype. Blood. 1987;69:1-6.
91. Rahbar S, Bunn HF. Association of hemoglobin H disease with Hb J-Iran (β77 His→Asp): impact on subunit assembly. Blood. 1987;70:1790-1791.
92. Chan V, Chan TK, Tso SC, Todd D. Combination of three α-globin gene loci deletions and hemoglobin New York results in a severe hemoglobin H syndrome. Am J Hematol. 1987;24:301-306.
93. Fucharoen S, Ayukarn K, Sanchaisuriya K, Fucharoen G. Atypical 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. 2001;66:312-316.
94. Jetsrisuparb A, Sanchaisuriya K, Fucharoen G, Fucharoen S, Siangnon S, Komwilaisak P. Triple heterozygosity of a hemoglobin variant: hemoglobin Pyrgos with other hemoglobinopathies. Int J Hematol. 2002;75:35-39.
95. Svasti S, Yodsowon B, Sriphanich R, et al. Association of Hb Hope [β136(H14)Gly→Asp] and Hb H disease. Hemoglobin. 2001;25:429-435.
96. 0-thalassemia with single functional α-globin gene. Am J Hematol. 1988;29:63-66.
97. Traeger-Synodinos J, Papassotiriou I, Vrettou C, Skarmoutsou C, Stamoulakatou A, Kanavakis E. Erythroid marrow activity and functional anemia in patients with the rare interaction of a single functional α-globin and β-globin gene. Haematologica. 2001;86:363-367.
98. Ma ESK, Chan AYY, Au WY, Yeung YM, Chan LC. Diagnosis of concurrent hemoglobin H disease and heterozygous β-thalassemia. Haematologica. 2001;86:432-433.
99. Daneshmend TK. Ocular findings in a case of haemoglobin H disease. Br J Ophthalmol. 1979;63:842-844.
100. Wu J-H, Shih L-Y, Kuo T-T, Lan R-S. Intrathoracic extramedullary hematopoietic tumor in hemoglobin H disease. Am J Hematol. 1992;41:285-288.
101. Eldor A, Rachmilewitz EA. The hypercoagulable state in thalassemia. Blood. 2002;99:36-43.
102. Daneshmend TK, Peachey RDG. Leg ulcers in alpha-thalassaemia (haemoglobin H disease). BrJ Dermatol. 1978;98;233-235.
103. Oner C, Oner R, Birben E, et al. Hb H disease with homozygosity for red cell G6PD deficiency in a Turkish female. Hemoglobin. 1998;22:157-160.
104. Wilkie AOM, Buckle VJ, Harris PC, et al. Clinical features and molecular analysis of the α thalassemia/mental retardation syndromes. I. Cases due to deletions involving chromosome band 16p13.3. Am J Hum Genet. 1990;46:1112-1126.
105. Gibbons RJ, Higgs DR. The alpha thalassemia/mental retardation syndromes. In: Steinberg MH, Forget BG, Higgs DR, Nagel RL, eds. Disorders of Hemoglobin; Genetics, Pathophysiology, and Clinical Management. Cambridge, United Kingdom: Cambridge University Press; 2001:470-488.
106. Horsley SW, Daniels RJ, Anguita E, et al. Monosomy for the most telomeric, gene-rich region of the short arm of human chromosome 16 causes minimal phenotypic effects. Eur J Hum Genet. 2001;9:217-225.
107. Daniels RJ, Peden JF, Lloyd C, et al. Sequence, structure and pathology of the fully annotated terminal 2 Mb of the short arm of human chromosome 16. Hum Mol Genet. 2001;10:339-352.
108. Gibbons RJ, Picketts DJ, Villard L, Higgs DR. Mutations in a putative global transcriptional regulator cause X-linked mental retardation with α thalassemia (ATR-X syndrome). Cell. 1995;80:837-845.
109. Wilkie AOM, Zeitlin HC, Lindenbaum RH, et al. Clinical features and molecular analysis of the α thalassemia/mental retardation syndromes. II. Cases without detectable abnormality of the α globin complex. Am J Hum Genet. 1990;46:1127-1140.
110. Berube NG, Jagla M, Smeenk C, De Repentigny Y, Kothary R, Picketts DJ. Neurodevelopmental defects resulting from ATRX overexpression in transgenic mice. Hum Mol Genet. 2002;11:253-261.
111. Gibbons RJ, Bachoo S, Picketts DJ, et al. Mutations in a transcriptional regulator (hATRX) establish the functional significance of a PHD-like domain. Nat Genet. 1997;17:146-148.
112. Gibbons RJ, McDowell TL, Raman S, et al. Mutations in the human SWI/SNF-like protein ATRX cause widespread changes in the pattern of DNA methylation. Nat Genet. 2000;24:368-371.
113. Kim HC, Schwartz E, Unstable hemoglobins. In: Beutler E, Lichtman MA, Coller BS, Kipps TJ, eds. Williams Hematology. 5th ed. New York, NY: McGraw-Hill; 1995:L33.
114. Lafferty J, Ali MAM, Carstairs K, Crawford L. Proficiency testing of hemoglobinopathy techniques in Ontario laboratories. Am J Clin Pathol. 1997;107:567-575.
115. Baysal E, Huisman THJ. Detection of common deletional α-thalassemia-2 determinants by PCR. Am J Hematol. 1994;46:208-213.
116. THAI) α-thalassemia-1 deletions. Am J Hematol. 2000;63:54-56.
117. Tan AS-C, Quah TC, Low PS, Chong SS. A rapid and reliable 7-deletion multiplex polymerase chain reaction assay for α-thalassemia [letter]. Blood. 2001;98:250-251.
118. FIL). Br J Haematol. 1988;70:233-238.
119. Waye JS, Eng B, Chui DHK. Identification of an extensive -α globin gene deletion in a Chinese individual. Br J Haematol. 1992;80:378-380.
120. Chan V, Yam I, Chen FE, Chan TK. A reverse dotblot method for rapid detection of non-deletion α thalassaemia. Br J Haematol. 1999;104:513-515.
121. Eng B, Patterson M, Walker L, Chui DHK, Waye JS. Detection of severe non-deletional α-thalassemia mutations using a single-tube multiplex ARMS assay. Genet Test. 2001;5:327-329.
122. SEA/) deletional α-thalassemia. Lancet. 1993;342:1145-1147.
123. Chan LC, So JC, Chui DHK. Comparison of haemoglobin H inclusion bodies with embryonic-globin in screening for α-thalassaemia. J Clin Pathol. 1995;48:861-864.
124. 0-thalassemia deletion: detection of embryonic-globin chains by ELISA. Am J Clin Pathol. 2000;114:927-931.
125. SEA) α-thalassaemia deletion by an enzyme linked immunosorbent assay for embryonic-globin chains. Acta Haematol. 2002;108:8-12.
126. Lam YH, Tang MHY. Risk of neural tube defects in the offspring of thalassaemia carriers in Hong Kong Chinese. Prenat Diagn. 1999;19:1135-1137.
127. 0 thalassaemia with Hb Icaria: three unusual cases of haemoglobinopathy H. Br J Haematol. 1996;92:332-335.
128. Hirsh J, Dacie JV. Persistent post-splenectomy thrombocytosis and thrombo-embolism: a consequence of continuing anaemia. Br J Haematol. 1966;12:44-53.
129. Tso SC, Chan TK, Todd D. Venous thrombosis in haemoglobin H disease after splenectomy. Aust N Z J Med. 1982;12:635-638.
130. Chan LC, Ma ESK, Chan AYY, et al. Should we screen for globin gene mutations in blood samples with mean corpuscular volume (MCV) greater than 80 fL in areas with high prevalence of thalassaemia? J Clin Pathol. 2001;54:317-320.
131. Lam YH, Ghosh A, Tang MH, Chan V. The risk of α-thalassaemia in offspring of β-thalassaemia carriers in Hong Kong. Prenat Diagn. 1997;17:733-736.
132. Leschot NJ, Verjaal M, Treffers PE. Risks of midtrimester amniocentesis; assessment in 3000 pregnancies. Br J Obstet Gynaecol. 1985;92:804-807.
133. Canadian Collaborative CVS-Amniocentesis Clinical Trial Group. Multicentre randomised clinical trial of chorionic villus sampling and amniocentesis. First report. Lancet. 1989;1(8628):1-6.
134. JOGC Clinical Practice Guidelines. Canadian guidelines for prenatal diagnosis. Techniques of prenatal diagnosis. J Obstet Gynaecol Can. 2001;23:616-624.
135. Kuliev A, Jackson L, Froster U, et al. Chorionic villus sampling safety. Report of World Health Organization/EURO meeting in association with the Seventh International Conference on Early Prenatal Diagnosis of Genetic Diseases, Tel-Aviv, Israel, May 21, 1994. Am J Obstet Gynaecol. 1996;174:807-811.
136. Ghosh A, Tang MHY, Lam YH, Fung E, Chan V. Ultrasound measurement of placental thickness to detect pregnancies affected by homozygous α-thalassaemia-1. Lancet. 1994;344:988-989.
137. Lam YH, Ghosh A, Tang MHY, Lee CP, Sin SY. Second-trimester hydrops fetalis in pregnancies affected by homozygous alpha-thalassaemia-1. Prenat Diagn. 1997;17:267-269.
138. Lo YMD, Hjelm NM, Fidler C, et al. Prenatal diagnosis of fetal RhD status by molecular analysis of maternal plasma. N Engl J Med. 1998;339:1734-1738.
139. Costa JM, Benachi A, Gautier E. New strategy for prenatal diagnosis of X-linked disorders [letter]. N Engl J Med. 2002;346:1502.
140. Chiu RWK, Lau TK, Leung TN, Chow KCK, Chui DHK, Lo YMD. Prenatal exclusion of β thalassaemia major by examination of maternal plasma. Lancet. 2002;360:998-1000.
141. 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;26:227-235.
142. TSaudiα): implications for clinical management. Br J Haematol. 2002;119:265-267.
143. Brain MC, Vella F. Haemoglobin-H trait in a Nepalese Gurkha woman. Lancet. 1958;1:192-194.