Congenital sideroblastic anaemia with intrauterine symptoms and early lethal outcome

Sideroblastic anaemia is a rare disease, which most often presents in early childhood. A case of ringed sideroblastic anaemia with onset in early foetal life in a female infant, resulting in severe intrauterine symptoms, is reported. Six weeks after birth a bone marrow examination revealed a large amount of typical ringed sideroblasts, thus establishing the diagnosis. In spite of repeated blood transfusions, the haemoglobin content gradually decreased. The condition was refractory to pyridoxal phosphate treatment and continued to deteriorate with lethal outcome four months after birth.