Successful hematopoietic stem cell transplantation in a patient with congenital dyserythropoietic anemia type II
PEDIATRIC TRANSPLANTATION, cilt.18, sa.4, 2014 (SCI-Expanded, Scopus)
- 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.