Benign clinical phenotype of co-inherited congenital dyserythropoietic anaemia type I and heterozygous haemoglobin Lepore

Eur J Haematol. 2023 Jul;111(1):161-164. doi: 10.1111/ejh.13974. Epub 2023 Apr 10.
No abstract available

Keywords: bioinformatics; hemoglobinopathy; inherited anaemia; molecular genetics; next-generation sequencing; whole exome sequencing.

Publication types

  • Case Reports

MeSH terms

  • Anemia, Dyserythropoietic, Congenital* / diagnosis
  • Anemia, Dyserythropoietic, Congenital* / genetics
  • Anemia, Dyserythropoietic, Congenital* / therapy
  • Hemoglobins, Abnormal* / genetics
  • Heterozygote
  • Humans
  • Phenotype

Substances

  • hemoglobin Lepore
  • Hemoglobins, Abnormal