The molecular pathology of β-thalassemia in Turkey: The Boǧaziçi University experience

Hemoglobin

Volumn 31, Issue 2, 2007, Pages 233-241

  Başak, A Nazi ^a  

^a BOGAZICI UNIVERSITY   (Turkey)

Author keywords

Thalassemia (thal); Molecular pathology and diagnosis; Turkey

Indexed keywords

BETA GLOBIN;

BETA THALASSEMIA; BIRTH RATE; CONFERENCE PAPER; CONSANGUINEOUS MARRIAGE; CONTROLLED STUDY; CULTURAL FACTOR; DISEASE SEVERITY; DNA DETERMINATION; GENE EXPRESSION; GENE FREQUENCY; GENE MUTATION; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC HETEROGENEITY; GEOGRAPHIC DISTRIBUTION; HETEROZYGOTE; HUMAN; MAJOR CLINICAL STUDY; MOLECULAR BIOLOGY; PATHOLOGY; PHENOTYPE; POLYMERASE CHAIN REACTION; PRENATAL DIAGNOSIS; PUBLIC HEALTH; SOUTHERN EUROPE; TURKEY (REPUBLIC);

AMINO ACID SUBSTITUTION; BETA-THALASSEMIA; GENE FREQUENCY; GLOBINS; HOMOZYGOTE; HUMANS; INCIDENCE; MUTATION; POLYMORPHISM, SINGLE NUCLEOTIDE; TURKEY;

EID: 34248146018     PISSN: 03630269     EISSN: 1532432X     Source Type: Journal    
DOI: 10.1080/03630260701296735     Document Type: Conference Paper

References (17)

1. Olivieri NF. The β-thalassemias. N Eng J Med 1999; 341(2):99-109 [Erratum: N Eng J Med 1999; 341(18)1407].
2. Flint J, Harding R, Boyce AJ, Clegg JB. The population genetics of the haemoglobinopathies. Bailliere's Clin Haematol 1998; 11(1):1-51.
3. Thein SL. Pathophysiology of β-thalassemia-A guide to molecular therapies. Hematology Am Soc Hematol Educ Program 2005; 31-37.
4. Weatherall DJ. Phenotype-genotype relationships in monogenic disease: lessons from the thalassaemias. Nat Rev Genet 2002; 2(4):245-255.
5. Thein SL. Genetic modifiers of β-thalassemia. Haematologica 2005; 90(5):649-660.
6. Weatherall DJ. Thalassemia: the long road from bedside to genome. Genetics 2004; 5(8):625-631.
7. Thein SL. Genetic insights into the clinical diversity of β-thalassaemia. Br J Haematol 2004; 124(3):264-274.
8. Stamatoyannopoulos G. Control of globin gene expression during development and erythroid differentiation. Exp Hematol 2005; 33(3):259-271.
9. Higgs DR. Gene regulation in hematopoiesis: new lessons from thalassemia. Hematology Am Soc Hematol Educ Program 2004; 1-13.
10. Huisman, THJ, Carver MFH, Baysal E. A Syllabus of Thalassemia Mutations (1997). Augusta: The Sickle Cell Anemia Foundation, 1997 (http://globin.cse.psu. edu).
11. Patrinos GP, Giardine B, Riemer C, Miller W, Chui DKH, Anagnou NP, Wajcman H, Hardison RC. Improvements in the HbVar database of human hemoglobin variants and thalassemia mutations for population and sequence variation studies. Nucleic Acids Res 2004; 32(Database issue):D537-D541 (http://globin.cse.psu.edu).
12. Arcasoy A, Canatan D, Köse MR, Üstündaǧ M, Eds. Hemoglobinapati ve talasemi. Ankara: National Hemoglobinopathy Council of Turkey, 2003.
13. Tadmouri GO, Basak AN. β-Thalassemia in Turkey: a review of the clinical, epidemiological, molecular, and evolutionary aspects. Hemoglobin; 25(2):227-239.
14. Bilenoǧlu O. β-Thalassemia in Turkey: molecular analysis of the β-globin gene and the effect of the β?Δ13 mutation on gene expression. Ph.D. Thesis, Bogaziçi University, Istanbul, Turkey, 2002.
15. Tüzmen S, Schechter AN. Genetic diseases of hemoglobin: diagnostic methods for elucidating β-thalassemia mutations. Blood Rev 2001; 15(1):19-29 [Erratum: Blood Rev 2001; 15(2):109].
16. Latif A. Molecular analysis of hemoglobinopathies and construction of a database; identification of a novel IVS-II-2 (T→A) mutation. M.Sc. Thesis, Bogaziçi University, Istanbul, Turkey, 2006.
17. Gülen RI. NeHIR, DoTBAr, Deniz: three biological databases established at Fatih University in Istanbul. M.Sc. Thesis, Fatih University, Istanbul, Turkey, 2003.