Profiles of indigenous patients with epilepsy in a Brazilian village.

Introduction: Identifying epilepsy in local indigenous populations and describing its epidemiological, etiological, electroencephalographic, and therapeutic aspects can assist public health policies planning toward epilepsy in indigenous communities.

Methods: This descriptive, cross-sectional study investigated epilepsy among indigenous people residing in Jaguapirú Village, Dourados, Mato Grosso do Sul, Brazil. Participants had their clinical histories reviewed and physical examination performed, as well as one or more electroencephalograms (EEG) registered.

Coinheritance of Hb Bristol-Alesha [β67(E11)Val→Met; HBB: c.202G>A] and the α212 Patchwork Allele in a Brazilian Child with Severe Congenital Hemolytic Anemia.

Hb Bristol-Alesha [HBB: c.202G>A; β 67 Val>Met] is a rare structural variant of hemoglobin (Hb) resulting from a GTG>ATG substitution at codon 67 of the β-globin gene that leads to the replacement of valine by methionine in the corresponding position of the β-globin chain. The methionine residue is subsequently modified to aspartic acid [β67(E11)Val-Met→Asp], possibly by autoxidation mechanisms.