Hydrops fetalis-associated congenital dyserythropoietic anemia treated with intrauterine transfusions and bone marrow transplantation.
Hydrops fetalis is rarely caused by congenital dyserythropoietic anemia (CDA). We report a patient with hydrops fetalis as a result of severe anemia. This patient needed intrauterine transfusions from 21 weeks of gestation until birth. The hematologic study showed an atypical CDA (hydrops fetalis-associated CDA) characterized by features resembling CDA type II, but negative acidified serum lysis test (HEMPAS negative). The patient was regularly transfused for a year, after which an allogeneic bone marrow transplantation (BMT) from an HLA-identical sibling was successfully carried out. His actual hemoglobin is 127 g/L, and he has not received transfusions for more than a year. In conclusion, intrauterine transfusions and BMT could cure an otherwise lethal atypical CDA.
Remacha
Angel F
AF
Department of Hematology, Hospital Santa Creu i Sant Pau, Barcelona, Spain.
Badell
Isabel
I
Pujol-Moix
Núria
N
Parra
Juan
J
Muñiz-Diaz
Eduardo
E
Ginovart
Gemma
G
Sardà
M Pilar
MP
Hernández
Angel
A
Moliner
Elisenda
E
Torrent
Montserrat
M
D000328:Adult; D000742:Anemia, Dyserythropoietic, Congenital / Q000150:complications* / Q000628:therapy; D001805:Blood Transfusion, Intrauterine; D016026:Bone Marrow Transplantation; D005192:Family Health; D005260:Female; D005315:Fetal Diseases / Q000628:therapy; D006801:Humans; D015160:Hydrops Fetalis / Q000175:diagnosis / Q000209:etiology* / Q000628:therapy; D007231:Infant, Newborn; D008297:Male; D011247:Pregnancy; D011296:Prenatal Diagnosis; D014184:Transplantation, Homologous; D016896:Treatment Outcome