Successful hematopoietic stem cell transplantation in a patient with congenital dyserythropoietic anemia type II

Unal Ş., Russo R., Gumruk F., Kuskonmaz B. B., Cetin M., Sayli T., ...More

PEDIATRIC TRANSPLANTATION, vol.18, no.4, 2014 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 18 Issue: 4
  • Publication Date: 2014
  • Doi Number: 10.1111/petr.12254
  • Journal Name: PEDIATRIC TRANSPLANTATION
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Hacettepe University Affiliated: Yes

Abstract

CDA are a group of inherited, rare diseases that are characterized by dyserythropoiesis and ineffective erythropoiesis associated with transfusion dependency in approximately 10% of cases. For these latter patients, the only curative treatment is HSCT. There are very limited data on HSCT experience in this rare disease. Herein, we report a five-yr six-month-old girl with compound heterozygous mutations in SEC23B gene, who was diagnosed to have CDA type II and underwent successful HSCT from her matched sibling donor.