Hemoglobin beta Kanagawa [c.443A>C; p.(Ter148Serext*21)]: A novel β-globin gene mutation causing dominantly inherited β-thalassemia

Pediatr Blood Cancer. 2019 Sep;66(9):e27871. doi: 10.1002/pbc.27871. Epub 2019 Jun 3.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Erythroblasts / metabolism
  • Erythroblasts / pathology
  • Female
  • Hemoglobins, Abnormal / genetics*
  • Hemoglobins, Abnormal / metabolism
  • Humans
  • Infant
  • Point Mutation*
  • beta-Thalassemia / genetics*
  • beta-Thalassemia / metabolism
  • beta-Thalassemia / pathology

Substances

  • Hemoglobins, Abnormal
  • hemoglobin Kanagawa