STUDIES ON CONGENITAL HEMOLYTIC SYNDROMES

Abstract

Four adult patients were studied in whom classic congenital spherocytic anemia was evident clinically and by laboratory examination. Anemia, as determined by total volume of erythrocytes, was marked although concentrations of hemoglobin were only slightly low. Rates of destruction and production of erythrocytes were markedly accelerated. Six pediatric patients with minimal clinical manifestations but definite laboratory evidence of congenital spherocytosis were evaluated. Anemia, in terms of total volume of erythrocytes, was present in all patients despite normal concentrations of hemoglobin in some patients. A potential for future severe clinical manifestations was shown to be present in five of six children by the demonstration of marked hemolytic defects equivalent to the hemolytic defects present in adult patients with classic congenital spherocytic anemia. In the present series of patients with congenital spherocytosis in whom concentrations of hemoglobin were normal or slightly low, values for the total volume of erythrocytes and the compensation index were similar to values in patients with intermediate (homozygous) thalassemia and in many patients with sickle cell anemia. Abnormally low values for total volume of erythrocytes and compensation index were present in four patients in whom the rate of destruction of erythrocytes was less than six times normal. Rates of production of erythrocytes were less than six times normal in the majority of patients studied. This is contrary to a previous concept of the capacity for erythropoietic compensation in such patients. These values imply that some factor(s) which has not as yet been identified regulates the rate of erythropoiesis in these patients. Studies of four family groups of patients with congenital spherocytosis demonstrated the absence of any specific familial pattern of manifestations of the disease. It has been suggested that management of children with minimal symptoms resulting from the presence of this disease consists of careful observation, splenectomy being deferred until late in childhood to avoid a maximal risk of infection after splenectomy. It has also been suggested that splenectomy be performed before the age of 10 years in order to avoid the complication of gallstones, and that splenectomy be performed at an even earlier age if persistent severe symptoms are present. The existence of a truly mild hemolytic defect was demonstrated in only 1 of the 10 patients studied. It would seem that splenectomy is not indicated in this unusual patient.