Molecular analysis and association with clinical and laboratory manifestations in children with sickle cell anemia

Molecular analysis and association with clinical and laboratory manifestations in children with sickle cell anemia

Autor Camilo-Araújo, Roberta Faria Google Scholar
Amancio, Olga Maria Silverio Autor UNIFESP Google Scholar
Figueiredo, Maria Stella Autor UNIFESP Google Scholar
Cabanãs-Pedro, Ana Carolina Google Scholar
Braga, Josefina Aparecida Pellegrini Autor UNIFESP Google Scholar
Instituição Universidade Federal de São Paulo (UNIFESP)
Resumo Objectives: To analyze the frequency of βS-globin haplotypes and alpha-thalassemia, and their influence on clinical manifestations and the hematological profile of children with sickle cell anemia.Method: The frequency of βS-globin haplotypes and alpha-thalassemia and any association with clinical and laboratorial manifestations were determined in 117 sickle cell anemia children aged 3–71 months. The confirmation of hemoglobin SS and determination of the haplotypes were achieved by polymerase chain reaction-restriction fragment length polymorphism, and alpha-thalassemia genotyping was by multiplex polymerase chain reaction (single-tube multiplex-polymerase chain reaction).Results: The genotype distribution of haplotypes was 43 (36.7%) Central African Republic/Benin, 41 (35.0%) Central African Republic/Central African Republic, 20 (17.0%) Rare/atypical, and 13 (11.1%) Benin/Benin. The frequency of the α3.7 deletion was 1.71% as homozygous (−α3.7/−α3.7) and 11.9% as heterozygous (−α3.7/αα). The only significant association in respect to haplotypes was related to the mean corpuscular volume. The presence of alpha-thalassemia was significantly associated to decreases in mean corpuscular volume, mean corpuscular hemoglobin and reticulocyte count and to an increase in the red blood cell count. There were no significant associations of βS-globin haplotypes and alpha-thalassemia with clinical manifestations.Conclusions: In the study population, the frequency of alpha-thalassemia was similar to published data in Brazil with the Central African Republic haplotype being the most common, followed by the Benin haplotype. βS-globin haplotypes and interaction between alpha-thalassemia and sickle cell anemia did not influence fetal hemoglobin concentrations or the number of clinical manifestations.
Palavra-chave Anemia, Sickle Cell
Alpha-thalassemia
Beta-globins
Haplotypes
Child
Idioma Inglês
Data de publicação 2014-10-01
Publicado em Revista Brasileira de Hematologia e Hemoterapia. Associação Brasileira de Hematologia e Hemoterapia e Terapia Celular, v. 36, n. 5, p. 334-339, 2014.
ISSN 1516-8484 (Sherpa/Romeo)
Publicador Associação Brasileira de Hematologia e Hemoterapia e Terapia Celular
Extensão 334-339
Fonte http://dx.doi.org/10.1016/j.bjhh.2014.06.002
Direito de acesso Acesso aberto Open Access
Tipo Artigo
SciELO S1516-84842014000500334 (estatísticas na SciELO)
Endereço permanente http://repositorio.unifesp.br/handle/11600/8611

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