Holmberg L, Jansson L, Rausing A, Henriksson P
Scand J Haematol. 1978 Jul;21(1):72-9. doi: 10.1111/j.1600-0609.1978.tb02496.x.
Type I dyserythropoietic anaemia was diagnosed in an infant, who presented with respiratory distress and hepatosplenomegaly soon after birth. Anaemia became manifest during the neonatal period. The case clearly proves the congenital nature of the disease. Abnormalities of the myelopoietic series indicate that it might be a stem cell disease and the presence of skeletal anomalies of the hands suggests a genetic relationship to some cases of Fanconi and Diamond anaemia. No serum lipid or vitamin E deficiency was present as in type II congenital dyserythropoietic anaemia. Serial serum ferritin determinations indicated that iron stores are increased early in type I congenital dyserythropoietic anaemia despite no transfusion load.
一名婴儿被诊断为I型异常红细胞生成性贫血，该婴儿出生后不久即出现呼吸窘迫和肝脾肿大。贫血在新生儿期就已显现。该病例清楚地证明了该病的先天性。骨髓造血系列的异常表明它可能是一种干细胞疾病，手部骨骼异常的存在提示与某些范可尼贫血和钻石黑fanconi贫血病例存在遗传关系。不像II型先天性异常红细胞生成性贫血那样存在血清脂质或维生素E缺乏。系列血清铁蛋白测定表明，尽管没有输血负担，但I型先天性异常红细胞生成性贫血早期铁储存就增加了。
