Hb S/β-Thalassemia in the REDS-III Brazil Sickle Cell Disease Cohort: Clinical, Laboratory and Molecular Characteristics.

ABSTRACT: We described the clinical, laboratory and molecular characteristics of individuals with Hb S (HBB: c.20A>T)/β-thalassemia (Hb S/β-thal) participating in the Recipient Epidemiology and Donor Evaluation Study (REDS-III) Brazil Sickle Cell Disease cohort. HBB gene sequencing was performed to genotype each β-thal mutation. Patients were classified as Hb S/β⁰-thal, Hb S/β⁺-thal-severe or Hb S/β⁺-thal based on prior literature and databases of hemoglobin (Hb) variants. Characteristics of patients with each β-thal mutation were described and the clinical profile of patients grouped into Hb S/β⁰-thal, Hb S/β⁺-thal and Hb S/β⁺-thal-severe were compared. Of the 2793 patients enrolled, 84 (3.0%) had Hb S/β⁰-tha

SUBMITTER: Belisario AR 

PROVIDER: S-EPMC7225056 | biostudies-literature | 2020 Jan

REPOSITORIES: biostudies-literature