MOLECULAR ANALYSIS of beta-THALASSEMIA PATIENTS: FIRST IDENTIFICATION of MUTATIONS HBB:c.93-2A > G and HBB:c.114G > A in BRAZIL

MOLECULAR ANALYSIS of beta-THALASSEMIA PATIENTS: FIRST IDENTIFICATION of MUTATIONS HBB:c.93-2A > G and HBB:c.114G > A in BRAZIL

Author Fernandes, Andrea Cristina Autor UNIFESP Google Scholar
Azevedo Shimmoto, Marily Maria Autor UNIFESP Google Scholar
Furuzawa, Gilberto Koiti Autor UNIFESP Google Scholar
Vicari, Perla Autor UNIFESP Google Scholar
Figueiredo, Maria Stella Autor UNIFESP Google Scholar
Institution Universidade Federal de São Paulo (UNIFESP)
Abstract The various clinical phenotypes in beta-thalassemias have stimulated the study of genetic factors that could modify the manifestations of these diseases. We examined 21 patients with beta-thalassemia (beta-thal) in order to identify some genetic modifying factors: beta-thalassemia mutations, HBG2:g. -158C>T polymorphism, alpha-globin gene deletions and (AT)xNz(AT)y motif within the hypersensitive site 2-locus control region (HS2-LCR). in the 42 alleles analyzed, the most frequent mutations observed were HBB:c.92+6T>C (30.9%), HBB:c.118C>T (16.7%), HBB:c.93-21G>A (11.9%) and HBB:c.92+1G>A (4.8%); this finding is in accordance with previous data of the Brazilian population. the other genetic factors analyzed showed no relation with the severity of the disease. for the first time in Brazil, we report HBB:c.93-2A>G and HBB:c.114G>A mutations on the beta-globin gene, both in a heterozygous state. This is also the first study to analyze the HS2-LCR in beta-thalassemic individuals in the Brazilian population.
Keywords alpha-Thalassemia (alpha-thal)
XmnI (G)gamma polymorphim
Hypersensitive site 2 (HS2) motif
Locus control region (LCR)
Language English
Sponsor Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)
Grant number FAPESP: 00/14322-0
Date 2011-01-01
Published in Hemoglobin. London: Informa Healthcare, v. 35, n. 4, p. 358-366, 2011.
ISSN 0363-0269 (Sherpa/Romeo, impact factor)
Publisher Informa Healthcare
Extent 358-366
Origin http://dx.doi.org/10.3109/03630269.2011.588354
Access rights Closed access
Type Article
Web of Science ID WOS:000293249500007
URI http://repositorio.unifesp.br/handle/11600/33345

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