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, sa.4, 2014 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 18 Sayı: 4
  • Basım Tarihi: 2014
  • Doi Numarası: 10.1111/petr.12254
  • Dergi Adı: PEDIATRIC TRANSPLANTATION
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Hacettepe Üniversitesi Adresli: Evet

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.