Successful hematopoietic stem cell transplantation in a patient with congenital dyserythropoietic anemia type II
| Autor: | Mualla Cetin, Concetta Langella, Baris Kuskonmaz, Roberta Russo, Duygu Uçkan Çetinkaya, Fatma Gumruk, Achille Iolascon, Tülin Revide Şayli, Sule Unal, Betul Tavil |
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| Přispěvatelé: | Acil Tıp, Sule, Unal, Russo, Roberta, Fatma, Gumruk, Baris, Kuskonmaz, Mualla, Cetin, Tulin, Sayli, Betul, Tavil, Concetta, Langella, Iolascon, Achille, Duygu Uckan, Cetinkaya |
| Rok vydání: | 2014 |
| Předmět: |
Ineffective erythropoiesis
Genetic Markers Pediatrics medicine.medical_specialty Heterozygote Congenital dyserythropoietic anemia type II medicine.medical_treatment Vesicular Transport Proteins Hematopoietic stem cell transplantation medicine.disease_cause Compound heterozygosity immune system diseases medicine Humans Sibling Anemia Dyserythropoietic Congenital Transplantation business.industry Siblings Hematopoietic Stem Cell Transplantation medicine.disease With congenital dyserythropoietic anemia surgical procedures operative Curative treatment Child Preschool Pediatrics Perinatology and Child Health Immunology Mutation Female business Rare disease |
| Zdroj: | Pediatric transplantation. 18(4) |
| ISSN: | 1399-3046 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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