Congenital dyserythropoietic anemia type I presenting as persistent pulmonary hypertension of the newborn.
Congenital dyserythropoietic anemia (CDA) is a rare group of inherited bone marrow disorders characterized by anemia with ineffective erythropoiesis. We report 3 siblings from a family known to have CDA type I who presented with persistent pulmonary hypertension of the newborn (PPHN). We suggest that the diagnosis of CDA type I should be considered in any neonate with PPHN and anemia.
Shalev
H
H
Division of Pediatrics, Soroka Medical Center, Beer Sheva, Israel.
Moser
A
A
Kapelushnik
J
J
Karplus
M
M
Zucker
N
N
Yaniv
I
I
Tamary
H
H
D000742:Anemia, Dyserythropoietic, Congenital / Q000175:diagnosis* / Q000235:genetics; D018912:Arabs; D003241:Consanguinity; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007557:Israel; D008297:Male; D010375:Pedigree; D010547:Persistent Fetal Circulation Syndrome / Q000175:diagnosis* / Q000235:genetics