Hematologic Studies on Erythropoietic Porphyria: A New Case with Severe Hemolysis, Chronic Thrombocytopenia, and Folic Acid Deficiency

An unusual case of erythropoietic porphyria with a severe hemolytic component and thrombocytopenia has been presented. The relationship between the porphyria and the thrombocytopenia, although unclear, showed definite evidence of persistent megakaryocytic hypoplasia. Additional information emphasizing the severity and chronicity of the anemic process included elevated F and A₂ hemoglobins, hyperferremia and extramedullary hematopoiesis. The nature of the hemolytic process appeared to be intracorpuscular and not correctible by normal plasma, glucose or ATP. The abnormal in vitro hemolysis, coupled with the appearance of the abnormal nucleated and mature red cells, are suggestive of the defect in heme synthesis seen in some of the hypochromic hypersideremic anemias. A description of therapeutic attempts as well as the appearance of a folate deficiency are included in the report.