Molecular basis of thalassemia syndromes in Serbia and Montenegro

Acta Haematologica

Volumn 113, Issue 3, 2005, Pages 175-180

  Pavlovic, S ^a   Urosevic, J ^a   Poznanic, J ^a   Perisic, L J ^a   Petrucev, B ^a   Tosic, N ^a   Krivokapic Dokmanovic, L ^b   Janic, D ^b   Cvorkov Drazic, M ^c   Bunjevacki, G ^c  

^a UNIVERSITY OF BELGRADE   (Serbia)

^b UNIVERSITY CHILDREN S HOSPITAL   (Serbia)

^c Mother and Child Health Care Institute   (Serbia)

Author keywords

Haplotype; Hb lepore; Hb variants; Thalassemia

Indexed keywords

HEMOGLOBIN;

ALPHA THALASSEMIA; ARTICLE; BETA THALASSEMIA; DOT HYBRIDIZATION; FAMILY; FEMALE; GENE AMPLIFICATION; GENE CLUSTER; GENE MUTATION; GLOBIN GENE; HAPLOTYPE; HUMAN; MALE; MOLECULAR GENETICS; PHENOTYPE; POLYMERASE CHAIN REACTION; POPULATION GENETICS; POPULATION RESEARCH; PRIORITY JOURNAL; SEQUENCE ANALYSIS; YUGOSLAVIA;

EID: 20844444156     PISSN: 00015792     EISSN: None     Source Type: Journal    
DOI: 10.1159/000084447     Document Type: Article

References (33)

1. Beksedic D, Cuharska T, Stojimirovic E, Dinic B: Rasprostranjenost hemoglobinopatija u SR Srbiji; in: Hemoglobin and Hemoglobinopathies. Belgrade, Serbian Blood Transfusion Centre, 1980, pp 122-127.
2. Efremov GD: Hemoglobinopathies in Yugoslavia: An update. Hemoglobin 1992;16:531-544.
3. Orkin SH, Kazazian HH Jr, Antonarakis SE, Goff SC, Boehm CD, Sexton JP, Weber PG, Giardina PJV: Linkage of β-thalassemia mutations and β-globin polymorphisms with DNA polymorphisms in human β-globin gene cluster. Nature 1982;296:627-631.
4. Molden DP, Alexander NM, Neeley WE: Fetal hemoglobin: Optimum conditions for its estimation by alkali denaturation. Am J Clin Pathol 1982;77:568-572.
5. Pembrey ME, McWade P, Weatherall DJ: Reliable routine estimation of small amounts of foetal haemoglobin by alkali denaturation. J Clin Pathol 1972;25:738-740.
6. Marengo-Rowe AJ: Rapid electrophoresis and quantitation of haemoglobin on cellulose acetate. J Clin Pathol 1965;18:790-792.
7. Poncz M, Solowiejczk D, Harpel B, Mory F, Schwartz E, Surrey S: Construction of human gene libraries from small amounts of peripheral blood: Analysis of β-like globin genes. Hemoglobin 1982;6:27-36.
8. Ristaldi MS, Murru S, Loudianos G, Casula I, Porcu S, Pigheddu D, Fanni B, Scuarratta GV, Agosti S, Parodi MI, Leone D, Camaschella C, Serra A, Pirastu M, Cao A: The C→T substitution in the distal CACCC box of the β-globin gene promoter is a common cause of silent β-thalassemia in the Italian population. Br J Haematol 1990;74:480-487.
9. Saiki RK, Chang CA, Levenson CH, Warren TC, Boehm CD, Kazazian HH Jr, Erlich HA: Diagnosis of sickle cell anemia and β-thalassemia with enzymatically amplified DNA and nonradioactive allele-specific oligonucleotide probes. N Engl J Med 1988;319:537-541.
10. Newton CR, Graham A, Heptinstall LE, Powell SJ, Summers C, Kalsheker N, Smith JC, Markham AF: Analysis of any point mutation in DNA. The amplification refractory mutation system (ARMS). Nucleic Acids Res 1989; 17:2503-2516.
11. Old JM, Varawalla NY, Weatherall DJ: Rapid detection and prenatal diagnosis of β-thalassaemia: Studies in Indian and Cypriot populations in the UK. Lancet 1990;33:834-837.
12. Urosevic J, Djureinovic T, Poznanic J, Cvorkov-Drazic M, Bunjevacki G, Janic D, Krivokapic-Dokmanovic L, Popovic Z, Pavlovic S: Homogeneity of Hb Lepore gene in FR Yugoslavia. Balkan J Med Genet 2001;4:29-32.
13. anti3.7 triplication by enzymatic amplification analysis. Br J Haematol 1993;82:105-109.
14. Simjanovska L, Petkov GT, Stojanovski N, Basak AN, Efremov GD: The origin of Hb O-Arab in the Balkan countries. Balkan J Med Genet 1998;1:8-12.
15. Sutton M, Bouhassira EE, Nagel RL: Polymerase chain reaction amplification applied to the determination of β-like globin gene cluster haplotypes. Am J Hematol 1989;32:66-69.
16. Kattamis C, Hu H, Cheng G, Reese AL, Gonzalez-Redondo JM, Kutlar A, Kutlar F, Huisman TH: Molecular characterization of β-thalassaemia in 174 Greek patients with thalassaemia major. Br J Haematol 1990;74: 342-346.
17. Petkov GH, Efremov GD, Efremov DG, Dimovski A, Tchaicarova P, Tchaicarov R, Rogina B, Agarwal S, Kutlar A, Kutlar F, Reese AL, Stoming TA, Huisman THJ: β-thalassemia in Bulgaria. Hemoglobin 1990;14:25-33.
18. Ringelhann B, Szelenyi JG, Horanyi M, Svobodova M, Divoky V, Indrak K, Hollan S, Marosi A, Laub M, Huisman TH: Molecular characterization of beta-thalassemia mutations in Hungary. Hum Genet 1993;92:385-387.
19. De Angioletti M, Lacerra G, Boletini E, Di Noce F, Musollino G, Carestia C: β- and α-globin genotypes in Albanian patients affected by β-globin gene disorders. Haematologica 2002; 87:1002-1003.
20. Kinniburgh AJ, Maquat LE, Schedl T, Rachmilewitz E, Ross J: mRNA-deficient beta zero thalassemia results from a single nucleotide deletion. Nucleic Acids Res 1982;10:5421-5427.
21. 2 91(F7) Leu→Pro in a Yugoslavian boy. Hemoglobin 1983;7:195-200.
22. Gasperini D, Galanello R, Melis MA, Iannelli S, Giordano P, Bernini LF, Cao A: Hemoglobin Sabine [β91(F7) Leu→Pro] occurrence in a Sardinian individual with hemolytic anemia and inclusion bodies. Haematologica 1992;77: 381-383.
23. Hull D, Winter PC, McHale CM, Lappin TRJ, Mayne EE: Familial hemolytic anemia due to Hb Sabine [β91(F7) Leu→Pro] identified by polymerase chain reaction. Hemoglobin 1998; 22:263-266.
24. Schneider RG, Veda S, Alperin JB, Brimham B, Jones R: Hb Sabine β91(F7) Leu→Pro. N Engl J Med 1969;280:739-745.
25. Pavlovic S, Kuzmanovic M, Urosevic J, Poznanic J, Zoranovic T, Djordjevic V, Rasovic N, Bunjevacki G, Cvorkov-Drazic M, Colovic M: Severe central nervous system thrombotic events in hemoglobin Sabine patient. Eur J Haematol 2004;72:67-70.
26. Baglioni C: The fusion of two peptide chains in hemoglobin Lepore and its interpretation as a genetic deletion. Proc Natl Acad Sci USA 1962;48:1880-1886.
27. Wayne JS, Eng B, Patterson M, Chui DHK, Chang LS, Gogiones B, Poon AO, Olivieri NF: HbE/Hb Lepore Hollandia in a family from Bangladesh. Am J Hematol 1994;47:262-265.
28. Miranda SR, Figueiredo MS, Kerbauy J, Grotto HZW, Saad STO, Costa FF: Hb Lepore Baltimore (delta 50 Ser beta 86 Ala) identified by DNA analysis in a Brazilian family. Acta Haematol 1994;91:7-9.
29. Ribeiro ML, Cunha E, Goncalves P, Martin Nunez G, Fernandez Galan MA, Tamagnini GP, Smetanina NS, Gu L-H, Huisman THJ: Hb Lepore-Baltimore (delta 68Leu-beta 84Thr) and Hb Lepore-Washington-Boston (delta 87Gln-beta IVS-II-8) in central Portugal and the Spanish Alta Extremadura. Hum Genet 1997;99:669-673.
30. Fioretti G, De Angioletti M, Masciangelo F, Lacerra G, Scarallo A, deBonis C, Pagano L, Guarino E, De Rosa L, Salvati F: Origin heterogeneity of Hb Lepore-Boston gene in Italy. Am J Hum Genet 1992;50:781-786.
31. Lanclos KD, Patterson J, Efremov GD, Wong SC, Villegas A, Ojwang PJ, Wilson JB, Kutlar F, Huisman THJ: Characterization of chromosomes with hybrid genes for Hb Lepore-Washington, Hb Lepore-Baltimore, Hb P-Nilotic and Hb Kenya. Hum Genet 1987;77:40-45.
32. Kazazian HH Jr, Orkin SH, Markham AF, Chapman CR, Youssoufian H, Waber PG: Quantification of the close association between DNA haplotypes and specific β-thalassaemia mutations in Mediterraneans. Nature 1984; 310:152-154.
33. Tadmouri GO, Garguier N, Demont J, Perrin P, Basak AN: History and origin of β-thalassemia in Turkey: Sequence haplotype diversity of β-globin genes. Hum Biol 2001;73:661-674.