Combinations of β chain abnormal hemoglobins with each other or with β-thalassemia determinants with known mutations: Influence on phenotype

Clinical Chemistry

Volumn 43, Issue 10, 1997, Pages 1850-1856

  Huisman, Titus Hendrik Jan ^a  

^a MEDICAL COLLEGE OF GEORGIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

HEMOGLOBIN BETA CHAIN; HEMOGLOBIN C; HEMOGLOBIN E; HEMOGLOBIN F; HEMOGLOBIN J; HEMOGLOBIN S; HEMOGLOBIN VARIANT;

ADOLESCENT; ADULT; ANEMIA; ARTICLE; BETA THALASSEMIA; CHILD; GENE MUTATION; HEMATOLOGY; HETEROZYGOSITY; HUMAN; INFANT; MAJOR CLINICAL STUDY; PHENOTYPE;

EID: 9844240500     PISSN: 00099147     EISSN: None     Source Type: Journal    
DOI: 10.1093/clinchem/43.10.1850     Document Type: Article

References (38)

1. Huisman THJ, Jonxis JHP. The hemoglobinopathies techniques of identification. Clinical and biochemical analysis, Vol. 6. New York: Marcel Dekker, 1977.
2. Righetti PG, Gianazza E, Bianchi-Bosisio E, Cossu G. Conventional isoelectric focusing and immobilized pH gradients for hemoglobin separation and identification. In: Huisman THJ, ed. The hemoglobinopathies (Methods in hematology, Vol. 15). Edinburgh: Churchill Livingstone, 1986:47-70.
3. Bissé E, Wieland H. High-performance liquid chromatographic separation of human haemoglobins. Simultaneous quantitation of foetal and glycated haemoglobins. J Chromatogr 1988;434:95-110.
4. Kutlar A, Kutlar F, Gu L-G, Mayson SM, Huisman THJ. Fetal hemoglobin in normal adults and β-thalassemia heterozygotes. Hum Genet 1990;85:106-10.
5. 4 column. J Liquid Chromatogr 1984;7:1969-77.
6. Kutlar F, Kutlar A, Huisman THJ. Separation of normal and abnormal hemoglobin chains by reversed-phase high-performance liquid chromatography. J Chromatogr 1986;357:147-53.
7. Wilson JB, Lam H, Pravatmuang P, Huisman THJ. Separation of tryptic peptides of normal and abnormal α, β, γ, and δ hemoglobin chains by high-performance liquid chromatography. J Chromatogr 1979;179:271-90.
8. Diaz-Chico JC, Yang KG, Stoming TA, Efremov DG, Kutlar A, Kutlar F, et al. Mild and severe β-thalassemia among homozygotes from Turkey: identification of the types by hybridization of amplified DNA with synthetic probes. Blood 1988;71:248-51.
9. Gonzalez-Redondo JM, Stoming TA, Lanclos KD, Gu YC, Kutlar A, Kutlar F, et al. Clinical and genetic heterogeneity in Black patients th homozygous β-thalassemia from the Southeastern United States. Blood 1988;72:1007-14.
10. Postnikov YuV, Molchanova TP, Huisman THJ. Allele-specific amplification for the identification of several hemoglobin variants. Hemoglobin 1993;17:439-52.
11. Serjeant B, Myerscough E, Serjeant GR, Higgs DR, Moo-Penn WF. Sickle cell-Hemoglobin D Iran: a benign sickle cell syndrome. Hemoglobin 1982;6:57-9.
12. Rabb L, Serjeant G. Sickle cell-Hemoglobin Caribbean - a benign syndrome. Hemoglobin 1982;6:403-5.
13. Brimhall B, Shih T-B, Jones RT. Hb S-Mobile: a new genetic combination. Hemoglobin 1983;7:521-31.
14. 2 47 (CD6) Asp→Tyr) in combination with Hemoglobin S, identified by high performance liquid chromatography (HPLC). Hemoglobin 1983;7: 423-33.
15. Rhoda MD, Arous N, Garel MC, Mazarin M, Monplaisir N, Braconnier F, et al. Interaction of Hemoglobin Siriraj with Hemoglobin S: a mild sickle cell syndrome. Hemoglobin 1986;10:21-31.
16. Tejuca M, Martinez G, Mendez J, Quintero I, Felicetti L, Colombo B. Association of Hb Toulouse with Hb S in a Nicaraguan girl. Hemoglobin 1987;11:43-6.
17. Williamson D, Perry DJ, Brown K, Langdown JV, De Silva C. Compound heterozygosity for two β chain variants: Hb S [β6(A3)Glu→Val] and the high affinity variant Hb San Diego [β109(G11)Val→Met]. Hemoglobin 1995;19:27-32.
18. Hutt PJ, Donaldson MH, Khatri J, Fairbanks VF, Hoyer JD, Thibodeau SN, et al. Hemoglobin S/Hemoglobin Osler: a case with 3 β globin chains. DNA sequence (AAT) proves that Hb Osler is β145 Tyr→Asn. Am J Hematol 1996;52:305-9.
19. Adachi K, Surrey S, Tamary H, Kim J, Eck HS, Rappaport E, et al. Hb Shelby [β131(H9)Gln→Lys] in association with Hb S [β6(A3)Glu→Val]: characterization, stability, and effects on Hb S polymerization. Hemoglobin 1993;17:329-43.
20. 232(B14)Leu→Val] observed in association with Hb S in an Arabian family. Hemoglobin 1992;16:259-66.
21. 2 [126 (H4) Val→Glu] found in combination with Hemoglobin S. Hemoglobin 1978;2:541-9.
22. 2119(GH2)Gly→Ala. Hemoglobin 1990;14:423-9.
23. Gu L-H, Leonova JYe, Huisman THJ. Hb S-Hb Lufkin disease in a Black male infant. Hemoglobin 1995;19:291-4.
24. Duerr M, Gross S, Ramachandran M, Huisman THJ. Case report: Hb CE disease in a 5-year-old without clinical symptoms. Hematol Rev 1991;5:141-3.
25. Yang KG, Kutlar F, George E, Wilson JB, Kutlar A, Stoming TA, et al. Molecular characterization of β-globin gene mutations in Malay patients with Hb E-β-thalassaemia and thalassaemia major. Br J Haematol 1989;72:73-80.
26. Gonzalez-Redondo JM, Kutlar A, Kutlar F, McKie VC, McKie KM, Baysal E, Huisman THJ. Molecular characterization of Hb S(C) β-thalassemia in American Blacks. Am J Hematol 1991;38:9-14.
27. O-thalassaemia with a T→C substitution in the donor splice site of the first intron of the β-globin gene. Br J Haematol 1988;71:113-7.
28. O-thalassemia (codon 15; TGG→TAG), a form of thalassemia intermedia. Am J Hematol 1995;50:26-9.
29. O-thalassemia [codon 15 (TGG→TGA] identified by DNA sequencing. Hemoglobin 1992;16:417-9.
30. 222(B4)Glu→Lys and β-thalassemia type IVS-1-6 (T→C). Hemoglobin 1990;14:449-51.
31. 29(A6)Ser→Cys in unrelated families of the Canary Islands. Hemoglobin 1993;17: 457-61.
32. O-thalassemia in an American Black family is due to a single nucleotide substitution in the acceptor splice junction of the second intervening sequence. Am J Hematol 1986;22:259-63.
33. O-thalassemia in members of an American Black family. Blood 1984;64:941-4.
34. Mrabet NT, McDonald MJ, Turci S, Sarkar R, Szabo A, Bunn HF. Electrostatic attraction governs the dimer assembly of human hemoglobin. J Biol Chem 1986;261:5222-8.
35. Bunn HF, Forget BG. Hemoglobin. Molecular, genetic and clinical aspects. Philadelphia: WB Saunders, 1986:690 pp.
36. Higgs DR, Weatherall DJ, eds. The haemoglobinopathies (Bailliere's clinical haematology, Vol. 6). London: WB Saunders, 1986: 449 pp.
37. α structural loci. Hemoglobin 1977;1:349-82.
38. Huisman THJ. Carver MFH, Baysal E. A syllabus of thalassemia mutations. Atlanta: Sickle Cell Anemia Foundation, 1997:310 pp.