αααanti-4.2 Haplotype and heterozygous β° thalassemia in a Sicilian family
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Clegg J, Naughton MA, Weatherall DJ (1966) Abnormal human haemoglobin separation and characterization of the ? and ? chains by chromatography and the determination of two new variants, Hb Chesapeake and HbJ (Bangkok). J Mol Biol 19:91?96
Dacie JV, Lewis SM (1975) Practical haematology, 5th edn. Churchill Livingstone, Edinburgh
Goossens M, Dozy AM, Embury SH, Zachariades Z, Hadjiminas MG, Stamatoyannopoulos G, Kan YW (1980) Triplicated ? globin loci in humans. Proc Natl Acad Sci USA 77:518?521
Higgs DR, Old JM, Pressley L, Clegg JB, Weatherall DJ (1980) A novel ?-globin gene arrangement in man. Nature 284:632?635
Huisman THJ, Jonxis JHP (1977) The hemoglobinopathies techniques of identification. Marcel Dekker Inc, New York
Kan YW, Dozy AM, Stamatoyannopoulos G, Hadjiminas MG, Zachariades Z, Furbetta M, Cao A (1979) Molecular basis of hemoglobin H disease in the Mediterranean population. Blood 54:1434?1438
Kanavakis E, Metaxotou-Mavromati A, Kattamis C, Wainscoat JS, Wood WG (1983) The triplicated ? gene locus and ? thalassemia. Br J Haematol 54:201?207
Kazazian HH, Orkin SH, Markham AF, Chapman CR, Youssoufian H, Waber PG (1984) Quantification of the close association between DNA haplotypes and specific ?-thalassaemia mutations in Mediterraneans. Nature 310:152?154
Lauer J, Shen CKJ, Maniatis T (1980) The chromosomal arrangement of human ? like globin genes: Sequence homology and ?-globin gene deletions. Cell 20:119?130
Lie-Injo LE, Herrera AR, Kan YW (1981) Two types of triplicated ? globin loci in humans. Nucleic Acids Res 9:3707?3717
Maggio A, Marcen� R, Gambino R, Pirrone A, Di Sparti A, Ragonese P, Caronia F, Giudice G (1982) What's the significance of Bart's Hb in the Sicilian population? Haematologica (Pavia) 67:789?791
Musumeci S, Schilir� G, Pizzarelli G, D'Agata A, Fischer A, Russo G (1979) Alpha thalassemia in Sicily: Haematological and biosynthetic studies. Br J Haematol 43:413?422
Orkin SH, Old J, Lazarus H, Altay C, Gurgey A, Weatherall DJ, Nathan DG (1979) The molecular basis of ?-thalassemias: Frequent occurrence of dysfunctional ? loci among non Asians with HbH disease. Cell 17:33?42
Orkin SH, Kazazian HH, Antonarakis SE, Goff SC, Boehm CD, Sexton JP, Waber PG, Giardina PJV (1982) Linkage of ? thalassemia mutations and ? globin gene polymorphisms with DNA polymorphisms in human ? globin gene cluster. Nature 15:627?631
Sampietro M, Cazzola M, Cappellini MD, Fiorelli G (1983) The triplicated ? gene locus and heterozygous ? thalassemia: A case of thalassemia intermedia. Br J Haematol 55:709?717
Southern EM (1975) Detection of specific sequences among DNA fragments separated by gel electrophoresis. J Mol Biol 98:503?506
Taylor JM, Dozy AM, Kan YW, Varmus HE, Lie-Injo LE, Ganesan J, Todd D (1974) Genetic lesion in homozygous ? thalassemia (hydrops fetalis). Nature 251:392?396
Trent RS, Higgs DR, Clegg JB, Weatherall DJ (1981) A new triplicated ?-globin gene arrangement in man. Br J Haematol 49:149?152
Troungos C, Krishnamoorthy R, Lombardo T, Sortino G, Cacciola E, Labie D (1984) A leftward deletional ?+ thalassemia found in East Sicily in conjunction with heterozygous ?-thalassemia. Hum Genet 66:822?825