Treatment and Management of Late Complications in Hereditary Hemolytic Anemia / 임상소아혈액종양

ABSTRACT

Hereditary hemolytic anemia is a very heterogeneous disorder in which abnormalities of red blood cell structural protein, globin protein, or enzyme defect lead to shortened life span. There has been much progress in revealing its pathophysiology and genetic backgrounds, but the lifelong plans for caring these patients are not well established yet. All patients with hereditary hemolytic anemic have three common problems transfusion dependency, iron overload and iron chelation therapy. Patients with hereditary spherocytosis (HS) usually manifest severe anemia in neonatal period and infancy, but transfusion requirements may decrease in adulthood. But patients with thalassemia or sickle cell disease usually transfusion-dependent throughout life. Maintaining the optimal hemoglobin (Hb) levels in these patients is crucial because correction of anemia and dilution of abnormal Hb helps prevent certain complications that frequently occur in these patients. Frequent transfusion leads to transfusion-mediated infection and hemochromatosis. Iron chelation therapy should be started early to prevent permanent organ damage. Folate therapy can be helpful in patients with hereditary spherocytosis. Regular evaluations for cholestasis should be started at age 5, and splenectomy with concurrent cholecystectomy can be considered if the patient has cholecystitis. Hydroxyurea can be used to reduce transfusion requirements and prevent complications in patients with β-thalassemia and sickle cell disease. Consensus on long-term management of patients with hereditary hemolytic anemia is lacking, especially for adult patients. But further efforts to build guidelines for long-term follow-up and management of the patients with hereditary hemolytic anemia in the context of Korean society are needed.