Human α-thalassemia syndromes: Detection of molecular defects

American Journal of Hematology

Volumn 53, Issue 2, 1996, Pages 81-91

  Kattamis, Antonios C ^a   Camaschella, Clara ^b   Sivera, Piera ^b   Surrey, Saul ^a   Fortina, Paolo ^a,c  

^a UNIVERSITY OF PENNSYLVANIA   (United States)

^b Universit degli Studi   (Italy)

^c CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

AFRICA; ALPHA THALASSEMIA; ASIA; EUROPE; GENE DELETION; GENE MAPPING; HUMAN; MEDITERRANEAN SEA; MOLECULAR GENETICS; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; REVIEW;

EID: 0029913489     PISSN: 03618609     EISSN: None     Source Type: Journal    
DOI: 10.1002/(sici)1096-8652(199610)53:2<81::aid-ajh5>3.0.co;2-%23     Document Type: Review

References (89)

1. Higgs DR, Vickers MA, Wilkie AO, Pretorius IM, Jarman AP, Weatherall DJ: A review of the molecular genetics of the human α-globin gene cluster. Blood 73:1081-1104, 1989.
2. Higgs DR: α-thalassemia. In Higgs DR, Weatherall DJ (eds.): "Bailliere's Clinical Haematology: The Haemoglobinopathies," Vol. 6. London: W.B. Saunders, 1993, pp 117-150.
3. Flint J, Harding RM, Boyce AJ, Clegg JB: The population genetics of the haemoglobinopathies. In Higgs DR, Weatherall DJ (eds.): "Bailliere's Clinical Haemotology: The Haemoglobinopathies," Vol. 6. London: W.B. Saunders, 1993, pp 215-261.
4. Dodé C, Rochette J, Krishnamoorthy R: Locus assignment of human α globin mutations by selective amplification and direct sequencing. Br J Haematol 76:275-281, 1990.
5. Chang J-G, Lee L-S, Lin C-P, Chen P-H, Chen C-P: Rapid diagnosis of α-thalassemia-1 of Southeast Asia type and hydrops fetalis by polymerase chain reaction. Blood 78:853-854, 1991.
6. Bowden DK, Vickers MA, Higgs DR: A PCR-based strategy to detect the common severe determinants of α-thalassaemia. Br J Haematol 81:104-108, 1992.
7. anti 3.7 triplication by enzymatic amplification analysis. Br J Haematol 83:105-111, 1993.
8. Ko TM, Tseng LH, Hsieh FJ, Hsu PM, Lee TY: Carrier detection and prenatal diagnosis of α-thalassemia of Southeast Asian deletion by polymerase chain reaction. Hum Genet 88:245-248, 1992.
9. Baysal E, Huisman THJ: Detection of common deletional α-thalassemia-2 determinants by PCR. Am J Hematol 46:208-213, 1994.
10. Bowie LJ, Reddy PL, Nagabhushan M, Sevigny P: Detection of α-thalassemia by multiplex polymerase chain reaction. Clin Chem 40:2260-2266, 1994.
11. Hsia YE, Ford CA, Shapiro LJ, Hunt JA, Ching NSP: Molecular screening for hemoglobin Constant Spring. Lancet 1(8645):988-990, 1989.
12. Efremov GD, Josifovska O, Nikolov N, Codrington JF, Oner C, Gonzalez-Redondo JM, Huisman THJ: Hb Icaria-Hb H disease: Identification of the Hb Icaria mutation through analysis of amplified DNA. Br J Haematol 75:250-253, 1990.
13. Kropp GL, Fucharoen S, Embury SH: Asymmetrically primed selective amplification/temperature shift fluorescence polymerase chain reaction to detect the hemoglobin Constant Spring mutation. Blood 78:26-29, 1991.
14. 2-globin DNA for detection of the hemoglobin Constant Spring mutation. Blood 73:1987-1992, 1989.
15. Yüregir GT, Aksoy K, Çürük MA, Dikmen N, Fei Y-J, Baysal E, Huisman THJ: Hb H disease in a Turkish family resulting from the interaction of a deletional α-thalassemia-1 and a newly discovered poly A mutation. Br J Haematol 80:527-532, 1992.
16. Safaya S, Trauber DR, Rieder RF: Studies on the in vitro and in vivo expression of a dysfunctional α-globin gene. Am J Hematol 39:188-193, 1992.
17. 2 globin gene. Blood 82:3503-3504, 1993.
18. 1-globin gene is a nondeletional α-thalassaemia-2 determinant in an Indian population. Br J Haematol 85:148-152, 1993.
19. 2-globin gene causes α thalassaemia. Br J Haematol 85:546-552, 1993.
20. 20.5 kb α-thal-1 deletion in two Turkish patients. Am J Hematol 44:270-275, 1993.
21. Traeger-Synodinos J, Kanavakis E, Tzetis M, Kattamis A, Kattamis C: Characterization of nondeletion α thalassemia mutations in the Greek population. Am J Hematol 44:162-167, 1993.
22. 2-globin gene causing α thalassaemia. Br J Haematol 87:139-143, 1994.
23. 2 globin gene (AATAAA→ AATA-) as a cause of α thalassaemia in Asian Indians. Br J Haematol 88:225-227, 1994.
24. 2 globin gene of a Laotian girl with hemoglobin H disease. Blood 83:3418-3419, 1994.
25. Hatton CS, Wilkie AO, Drysdale HC, Wood WG, Vickers MA, Sharpe J, Ayyub H, Pretorius IM, Buckle VJ, Higgs DR: α-thalassemia caused by a large (62 kb) deletion upstream of the human α-globin gene cluster. Blood 76:221-227, 1990.
26. n. Nature 346:868-871, 1990.
27. Liebhaber SA, Griese EU, Weiss I, Cash FE, Ayyub H, Higgs DR, Horst J: Inactivation of human α-globin gene expression by a de novo deletion located upstream of the α-globin gene cluster. Proc Natl Acad Sci USA 87:9431-9435, 1990.
28. Romao L, Osorio-Almeida L, Higgs DR, Lavinha J, Liebhaber SA: α-thalassemia resulting from deletion of regulatory sequences far upstream of the α-globin structural genes. Blood 78:1589-1595, 1991.
29. Romao L, Cash F, Weiss I, Liebhaber S, Piratsu M, Galanello R, Loi A, Paglietti E, Ioannou P, Cao A: Human α-globin gene expression is silenced by terminal truncation of chromosome 16p beginning immediately 3′ of the ζ-globin gene. Hum Genet 89:323-328, 1992.
30. 2-locus in mRNA and protein synthesis. J Biol Chem 261:15327-15333, 1986.
31. Embury SH, Miller JA, Dozy AM, Kan YW, Chan V, Todd D: Two different molecular organizations account for the single α-globin gene of the α-thalassemia-2 genotype. J Clin Invest 66:1319-1325, 1980.
32. Higgs DR, Hill AV, Bowden DK, Weatherall DJ, Clegg JB: Independent recombination events between the duplicated human a globin genes; implications for their concerted evolution. Nucleic Acids Res 12:6965-6977, 1984.
33. Winichagoon P, Higgs DR, Goodbourn SE, Clegg JB, Weatherall DJ, Wasi P: The molecular basis of α-thalassaemia in Thailand. EMBO J 3:1813-1818, 1984.
34. Lui TC, Chiou SS, Lin SF, Chen TP, Tseng WP, Chen PH, Chang JG: Molecular basis and hematological characterization of Hb H disease in southeast Asia. Am J Hematol 45:293-297, 1994.
35. Zhao JB, Zhao L, Fei Y-J, Lui JC, Huisman THJ: A novel α-thalassemia-2 (-2.7-kb) observed in a Chinese patients with Hb H disease. Am J Hematol 38:248-249, 1991.
36. Kulozik AE, Kar BC, Serjeant GR, Serjeant BE, Weatherall DJ: The molecular basis of α thalassemia in India. Its interaction with the sickle cell gene. Blood 71:467-472, 1988.
37. Nicholls RD, Fischel-Ghodsian N, Higgs DR: Recombination at the human α-globin gene cluster: Sequence features and topological constraints. Cell 49:369-378, 1987.
38. 0 thalassaemia defect in the South African population. Br J Haematol 66:539-542, 1987.
39. Drysdale HC, Higgs DR: α-thalassaemia in an Asian Indian. Br J Haematol 68:264, 1988.
40. FIL). Br J Haematol 70:233-238, 1988.
41. Waye JS, Eng B, Chui DH: Identification of an extensive ζ-α globin gene deletion in a Chinese individual. Br J Haematol 80:378-380, 1992.
42. Higgs DR, Goodbourn SE, Lamb J, Clegg JB, Weatherall DJ, Proudfoot NJ: ζ-thalassaemia caused by a polyadenylation signal mutation. Nature 306:398-400, 1983.
43. Clegg JB, Weatherall DJ, Milner PF: Haemoglobin Constant Spring - A chain termination mutant? Nature 234:337-340, 1971.
44. De Jong WW, Meera Khan P, Bernini LF: Hemoglobin Koya Dora: High frequency of a chain termination mutant. Am J Hum Genet 27:81-90, 1975.
45. Gupta RB, Tiwary RS, Pande PL, Kutlar F, Oner C, Oner R, Huisman THJ: Hemoglobinopathies among the Gond tribal groups of central India; interaction of α- and β-thalassemia with β chain variants. Hemoglobin 15:441-458, 1991.
46. Fucharoen S, Fuchareon G, Fukumaki Y: Simple non-radioactive method for detecting haemoglobin Constant Spring gene. Lancet 335:1527, 1990.
47. 2-globin gene by restriction analysis with Sma I. Hemoglobin 14:69-74, 1990.
48. 2 109 Leu→Arg). Blood 76:2630-2636, 1990.
49. 1-globin gene and an Alu I repeat. Blood 65:1434-1438, 1985.
50. Pressley L, Higgs DR, Clegg JB, Weatherall DJ: Gene deletions in a thalassemia prove that the 5′ ζ locus is functional. Proc Natl Acad Sci USA 77:3586-3589, 1980.
51. Orkin SH, Michelson A: Partial deletion of the α-globin structural gene in human α-thalassaemia. Nature 286:538-540, 1980.
52. Kutlar F, Gonzalez-Redondo JM, Kutlar A, Gurgey A, Altay Ç, Efremov GD, Kleman K, Huisman THJ: The levels of ζ, γ, and δ chains in patients with HbH disease. Hum Genet 82:179-186, 1989.
53. 1-globin genes. Blood 78:2740-2746, 1991.
54. Pressley L, Higgs DR, Aldridge B, Metaxatou-Mavromati A, Clegg JB, Weatherall DJ: Characterisation of a new α thalassemia 1 defect due to a partial deletion of the α globin gene complex. Nucleic Acids Res 8:4889-4898, 1980.
55. Fortina P, Parrella T, Sartore M, Gottardi E, Gabutti V, Delgrosso K, Mansfield E, Rappaport E, Schwartz E, Camaschella C, Surrey S: Interaction of rare illegitimate recombination event and a poly A addition site mutation resulting in a severe form of α thalassemia. Blood 83:3356-3362, 1994.
56. Fortina P, Dianzani I, Serra A, Gottardi E, Saglio G, Farinasso L, Piga A, Gabutti V, Camaschella C: A newly characterized α-thalassaemia-1 deletion removes the entire α-like globin gene cluster in an Italian family. Br J Haematol 78:529-534, 1991.
57. Villegas A, Sanchez J, Gonzalez FA, Carreno DL, Ropero P: α-thalassemia-1 (-CAL mutation) in a Spanish family. Am J Hematol 46:367-368, 1994.
58. Gonzalez-Redondo JM, Diaz-Chico JC, Malcorra-Azpiazu JJ, Balda-Aguirre MI, Huisman TH: Characterization of a newly discovered α-thalassaemia-1 in two Spanish patients with Hb H disease. Br J Haematol 70:459-463, 1988.
59. Villegas A, Sanchez J, Richard P, Gonzalez FA, Del Potro E, Armada B, Carreno DL, Espinos D: Characterization of a new α-thalassemia-1 mutation in a Spanish family. Hemoglobin 18:29-37, 1994.
60. Villegas A, Calero F, Vickers MA, Ayyub H, Higgs DR: α thalassaemia in two Spanish families. Eur J Haematol 44:109-114, 1990.
61. Gonzalez-Redondo JM, Gilsanz F, Ricard P: Characterization of a new α-thalassemia-1 deletion in a Spanish family. Hemoglobin 13:103-116, 1989.
62. Shalmon L, Kirschmann C, Zaizov R: A new deletional α thalassemia detected in Yemenites with hemoglobin H disease. Am J Hematol 45:201-204, 1994.
63. Orkin SH, Goff SC, Hechtman RL: Mutation in an intervening sequence splice junction in man. Proc Natl Acad Sci USA 78:5041-5045, 1981.
64. Felber BK, Orkin SH, Hamer DH: Abnormal RNA splicing causes one form of α thalassemia. Cell 29:895-902, 1982.
65. Thein SL, Wallace RB, Pressley L, Clegg JB, Weatherall DJ, Higgs DR: The polyadenylation site mutation in the α-globin gene cluster. Blood 71:313-319, 1988.
66. Pirastu M, Saglio G, Chang JC, Cao A, Kan YW: Initiation codon mutation as a cause of α thalassemia. J Biol Chem 259:12315-12317, 1984.
67. 1-globin gene. Structural characterization and evidence for a mild thalassemic phenotype. J Clin Invest 80:1416-1421, 1987.
68. Morle F, Lopez B, Henni T, Godet J: α thalassaemia associated with the deletion of two nucleotides at position -2 and -3 preceding the AUG codon. EMBO J 4:1245-1250, 1985.
69. Clegg JB, Weatherall DJ, Contopolou-Griva I, Caroutsos K, Poungouras P, Tsevrenis H: Haemoglobin Icaria, a new chain-termination mutant which causes α thalassaemia. Nature 251:245-247, 1974.
70. Honig GR, Shamsuddin M, Zaizov R, Steinherz M, Solar I, Kirschmann C: Hemoglobin Petah Tikva (α 110 Ala→Asp): A new unstable variant with α-thalassemia-like expression. Blood 57:705-711, 1981.
71. 2-globin gene and has an α thalassemia biosynthetic ratio. Am J Hematol 48:289-290, 1995.
72. 1globin genes in a black family with Hb H disease. Am J Hematol 39:299-303, 1992.
73. Fei Y-J, Liu JC, McKie VC, Huisman TH: Hb H disease and mild mental retardation in a black girl with a Hb S heterozygosity. Hemoglobin 16:431-434, 1992.
74. Huisman TH, Gu LH, Liu JC, Fei Y-J, Walker ELD: Black α-thalassemia-1: Partial characterization of an approximately 80 kb deletion which includes the ζ- and α-globin genes. Hemoglobin 17:345-353, 1993.
75. Felice AE, Cleek MP, McKie K, McKie V, Huisman TH: The rare α-thalassemia-1 of blacks is a ζ-α-thalassemia-1 associated with deletion of all α- and ζ-globin genes. Blood 63:1253-1257, 1984.
76. Wilkie AO, Buckle VJ, Harris PC, Lamb J, Barton NJ, Reeders ST, Lindenbaum RH, Nicholls RD, Barrow M, Bethlenfalvay NC, Hutz MH, Tolmie JL, Weatherall DJ, Higgs DR: Clinical features and molecular analysis of the ζ thalassemia/mental retardation syndromes. I. Cases due to deletions involving chromosome band 16p13.3 Am J Hum Genet 46:1112-1126, 1990.
77. Wilkie AO, Zeitlin HC, Lindenhaum RH, Buckle VJ, Fischel-Ghodsian N, Chui DH, Gardner-Medwin D, MacGillivray MH, Weatherall DJ, Higgs DR: 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 46:1127-1140, 1990.
78. Steinberg MH, Coleman MB, Adams JGD, 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: HbH disease in sickle cell trait. Blood 67:469-473, 1986.
79. Olivieri NF, Chang LS, Poon AO, Michelson AM, Orkin SH: An α-globin gene initiation codon mutation in a black family with HbH disease. Blood 70:729-732, 1987.
80. Bradley TB, Wohl RC, Smith EJ: Elongation of the α-globin chain in a black family: Interaction with Hb G Philadelphia. Clin Res 23:131, 1975.
81. 2(116GAG→UAG). J Clin Invest 80:154-159, 1987.
82. Safaya S, Rieder RF: Dysfunctional α-globin gene in hemoglobin H disease in blacks. A dinucleotide deletion produces a frameshift and a termination codon. J Biol Chem 263:4328-4332, 1988.
83. Honig GR, Shamsuddin M, Vida LN, Mompoint M, Valcourt E, Bowie LJ, Jones EC, Powers PA, Spritz RA, Guis M, Embury SH, Conboy J, Kan YW, Mentzer WC, Weil SC, Hirata RK, Waloch J, O'Riordan JF, Goldstick TK: Hemoglobin Evanston (α 14 Trp→Arg). An unstable α-chain variant expressed as α thalassemia. J Clin Invest 73:1740-1749, 1984.
84. Indrak K, Gu YC, Novotny J, Huisman TH: A new α-thalassemia-2 deletion resulting in microcytosis and hypochromia and in vitro chain imbalance in the heterozygote. Am J Hematol 43:144-145, 1993.
85. Higgs DR, Ayyub H, Clegg JB, Hill AV, Nicholls RD, Teal H, Wainscoat JS, Weatherall DJ: α thalassaemia in British people. Br Med J [Clin Res] 290:1303-1306, 1985.
86. Vickers MA, Higgs DR: A novel deletion of the entire α-globin gene cluster in a British individual. Br J Haematol 72:471-473, 1989.
87. Sabath DE, Detter JC, Tait JF: A novel deletion of the entire α globin locus causing α-thalassemia-1 in a Northern European family. Am J Clin Pathol 102:650-654, 1994.
88. Fortina P, Delgrosso K, Rappaport E, Poncz M, Ballas SK, Schwartz E, Surrey S: A large deletion encompassing the entire α-like globin gene cluster in a family of Northern European extraction. Nucleic Acids Res 16:11223-11235, 1988.
89. 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 80:837-845, 1995.