Congenital dyserythropoietic anaemia type I. Report of two siblings from Saudi Arabia.
This study describes two siblings (a boy and a girl) affected with congenital dyserythropoietic anaemia type I. It is the seventh familial occurrence reported. The girl presented in the neonatal period with anaemia, jaundice and hepatosplenomegaly and required 4 blood transfusions in the first 7 months of life, while her brother was discovered to be anaemic and jaundiced only at the age of 2 years and did not receive any blood transfusion.
al-Fawaz
I M
IM
Department of Pediatrics, College of Medicine, King Saud University, Riyadh, Saudi Arabia.
al-Mashhadani
S A
SA
D000742:Anemia, Dyserythropoietic, Congenital / Q000175:diagnosis / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D005260:Female; D006801:Humans; D008297:Male; D012529:Saudi Arabia