Abstract • 110

Elliptocytosis can range clinically from asymtomatic to severe hemolysis. The most severe subtype is called hereditary pyropoikilocytosis und up to now has been presented predominantly in Black Africans and Americans.

We report a 5¼ year old boy of Askenazi Jewish ancestry, who needed 28 blood transfusions within the first 5 years due to hemolytic crises. His clinical progress, diagnostic and therapy are described.

The first symptoms appeared at the age of four weeks. He suffered from a normocytic anemia with anisocytosis, poikilocytosis, spherocytosis and reticulocytosis. The osmotic fragily tests were only moderately abnormal after a 24-hour-incubation. Especially due to infections the hemoglobin decreased to 3,8 g/dl, within the symptom free interval it ranged from 6 to 9 g/dl. At the age of five years due to chronic severe hemolysis gallbladder sludge and cholestasis occurred. Splenectomy and cholecystotomy were performed. Since that time the patient is free of symptoms and the hemoglobin stabilised at 13 g/dl, reticulocytosis of 32%‰.

The molculargenetic tests showed a G to A mutation in Codon 28 (exon 2) of the α-spectrin gene on one allele replacing arginin by histidin. This mutation was not observed in his parents, so that there has to be a spontaneous mutation. However the clinical severity cannot only be explained by the elliptocytosis"-mutation. In addition to the primary mutation, we found a defect on the second" allele, that leads to a decreased spectrin synthesis and enforces hemolysis.

This case shows, that hereditary pyropoikilocytosis does not only appear in patients of African descent but is also present in Caucasians. Codon 28 of the spectrin gene seems to be a hot spot of mutation.