Successful hematopoietic stem cell transplantation in a patient with congenital dyserythropoietic anemia type II.
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.
Division of Pediatric Hematology, Hacettepe University, Ankara, Turkey.
Sule
S
Unal
Roberta
R
Russo
Fatma
F
Gumruk
Baris
B
Kuskonmaz
Mualla
M
Cetin
Tulin
T
Sayli
Betul
B
Tavil
Concetta
C
Langella
Achille
A
Iolascon
Duygu
D
Uckan Cetinkaya
D000742:Anemia, Dyserythropoietic, Congenital / Q000235:genetics / Q000628:therapy*; D002675:Child, Preschool; D005260:Female; D005819:Genetic Markers; D018380:Hematopoietic Stem Cell Transplantation; D006579:Heterozygote; D006801:Humans; D009154:Mutation; D035781:Siblings; D033921:Vesicular Transport Proteins / Q000235:genetics
D005819:Genetic Markers; C543353:SEC23B protein, human; D033921:Vesicular Transport Proteins
SEC23B; congenital dyserythropoietic anemias; iron; transplantation