Debbie J Álvarez-Cruces, Maite Otondo-Briceño, Alejandra Nocceti-de-la-Barra, Alejandra Medina-Moreno, Rocío Henríquez-Tejo
Cultural topics with clinical implications needed in the dental curriculum to develop intercultural competence: A systematic review
Journal of dental education
hereditary spherocytosis hs one common causes hereditary hemolytic anemia current diagnostic guidelines hs mainly based combination physical examination laboratory investigation however patients present complicated clinical manifestations cannot explained routine diagnostic protocols report rare hs case mild anemia extremely high indirect bilirubin levels high expression fetal hemoglobin using whole exome sequencing analysis patient identified heterozygous carrier de novo sptb nonsense mutation c605g pw202 compound heterozygous carrier known ugt1a1 klf1 mutations genetic analysis based interpretation patients genomic data achieved precise diagnosis excellent explanation complicated phenotype also provided valuable suggestions subsequent appropriate approaches treatment surveillance prophylaxis