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J Hum Genet ; 61(7): 605-11, 2016 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-26961071

RESUMEN

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.


Asunto(s)
Anemia de Células Falciformes/genética , Anemia de Células Falciformes/metabolismo , Haplotipos , Hemoglobina Falciforme/genética , Patrón de Herencia , Estrés Oxidativo , Adolescente , Adulto , Anemia de Células Falciformes/diagnóstico , Anemia de Células Falciformes/tratamiento farmacológico , Antidrepanocíticos/uso terapéutico , Biomarcadores , Niño , Femenino , Estudios de Asociación Genética , Genotipo , Hemólisis , Humanos , Hidroxiurea/uso terapéutico , Peroxidación de Lípido , Masculino , Persona de Mediana Edad , Familia de Multigenes , Fenotipo , Índice de Severidad de la Enfermedad , Adulto Joven
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