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., ...Daha Fazla

PEDIATRIC TRANSPLANTATION, cilt.18, 2014 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Cilt numarası: 18 Konu: 4
  • Basım Tarihi: 2014
  • Doi Numarası: 10.1111/petr.12254
  • Dergi Adı: PEDIATRIC TRANSPLANTATION

Özet

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.