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J Hum Genet ; 61(7): 605-11, 2016 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-26961071

RESUMO

Beta S-globin gene cluster haplotypes (ß(S)-haplotypes) can modulate the response to hydroxycarbamide (HC) treatment in sickle cell anemia (SCA) patients. In Brazil, the most common haplotypes are Bantu and Benin, and both confer a poor prognosis for patients when untreated with HC. We evaluated oxidative and hemolytic biomarkers in 48 SCA patients undergoing HC treatment separated in three subgroups: Bantu/Bantu, Bantu/Benin and Benin/Benin haplotype. On the basis of reduced haptoglobin (HP) levels, patients with Bantu/Bantu haplotypes had 3.0% higher hemolysis degree when compared with those with Bantu/Benin haplotypes (P=0.01). The Benin/Benin patients had 53.6% greater lipid peroxidation index than the Bantu/Bantu patients (P=0.01) because of evaluated thiobarbituric acid reactive species levels. The Bantu/Benin subgroup had intermediate levels of hemolytic and oxidative stress markers compared with the homozygous subgroups. Through strict inclusion criteria adopted, as well as consolidated and well-described hemolytic and the oxidative parameters evaluated, we suggest a haplotype-interaction response to HC treatment mediated by a 'balance' between the genetic factors of each haplotype studied.


Assuntos
Anemia Falciforme/genética , Anemia Falciforme/metabolismo , Haplótipos , Hemoglobina Falciforme/genética , Padrões de Herança , Estresse Oxidativo , Adolescente , Adulto , Anemia Falciforme/diagnóstico , Anemia Falciforme/tratamento farmacológico , Antidrepanocíticos/uso terapêutico , Biomarcadores , Criança , Feminino , Estudos de Associação Genética , Genótipo , Hemólise , Humanos , Hidroxiureia/uso terapêutico , Peroxidação de Lipídeos , Masculino , Pessoa de Meia-Idade , Família Multigênica , Fenótipo , Índice de Gravidade de Doença , Adulto Jovem
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