al-Fawaz I M, al-Mashhadani S A
Department of Pediatrics, College of Medicine, King Saud University, Riyadh, Saudi Arabia.
Acta Haematol. 1995;93(1):50-3. doi: 10.1159/000204092.
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.
本研究描述了两名患有I型先天性红细胞生成异常性贫血的同胞（一名男孩和一名女孩）。这是报告的第七例家族性病例。该女孩在新生儿期即出现贫血、黄疸和肝脾肿大，在出生后的前7个月需要输血4次，而她的弟弟直到2岁时才被发现贫血和黄疸，未接受任何输血治疗。
