![]() DOI:10.1159/000486229įattizzo B, Giannotta JA, Cecchi N et al.: Confounding factors in the diagnosis and clinical course of rare congenital hemolytic anemias. He BJ, Liao L, Deng ZF et al.: Molecular Genetic Mechanisms of Hereditary Spherocytosis: Current Perspectives. Iolascon A, Andolfo I, Russo R: Advances in understanding the pathogenesis of red cell membrane disorders. Hematology Am Soc Hematol Educ Program 2018:377-381, 2018. Mohandas N: Inherited hemolytic anemia: a possessive beginner’s guide. Perrotta S, Gallagher PG, Mohandas N: Hereditary spherocytosis. ĭelaunay J: The molecular basis of hereditary red cell membrane disorders. Orphanet, das Portal für seltene Erkrankungen. Minkowski O: Über eine hereditäre, unter dem Bilde eines chronischen Ikterus mit Urobilinurie, Splenomegalie und Nierensiderosis verlaufende Affection. 7 8 Follow-up 8.1 Controls in asymptomatic patients In splenectomy, recommendations for vaccination and / or antibiotic prophylaxis must be followed. Mild hemolysis with anemia may persist in patients with a severe course, especially with spectrin defects. ![]() However, to date, it is unclear whether laparoscopic partial resection is equivalent to open, subtotal splenectomy in terms of hematologic outcome and risk of recurrence. Laparoscopic splenectomy is an alternative for hereditary spherocytosis. In an analysis of the Splenectomy in Congenital Hemolytic Anemia Consortium Registry, the mean hemoglobin increase was higher after total splenectomy than after partial splenectomy (4.2 g/dl vs 2.4 g/dl, p<0.001). Most data on subtotal splenectomy are from children, not adults. This risk is reduced by subtotal rather than total splenectomy, thus the former procedure should be preferred. ![]() The risk of splenectomy lies in the surgical procedure and the lifelong increased rate of severe infections, mainly due to pneumococci with a mortality of 0.1-0.4%. In severe jaundice leading to social problems increased jaundice in the presence of concomitant Gilbert's syndrome. In symptomatic/painful splenomegaly with associated thrombocytopenia or leukocytopenia that affects the patient*s quality of life. Often, microscopic differential blood count can guide further diagnosis. Other forms of congenital hemolytic anemia: Hereditary enzyme defects or structural defects of the hemoglobin genes also cause hemolytic anemia. The diagnosis is confirmed by the detection of the mutation of the SEC23B gene. In case of doubt, detection of dyserythropoiesis in bone marrow aspirate is required for definite differentiation. The reticulocyte count is often normal, but always not adequately increased in relation to the anemia. Splenectomy is not effective and contraindicated due to increased risk of thromboembolism.Ĭongenital dyserythropoietic anemia type II: Although single spherocytes are also detectable in the smear, it shows marked poikilocytosis, almost always with basophilia. Patient history shows frequent intrauterine hydrops with ascites. Hereditary xerocytosis (formerly also dehydrated hereditary stomatocytosis): Largely unremarkable blood count, only rarely stomatocytes and echinocytes (especially in phase contrast microscopy). After storage of the blood sample at 4 0 C for 2 hours, serum potassium and MCV increase, MCHC normalizes. Differentiation is important because splenectomy is often ineffective and associated with increased risk of thromboembolism. Hereditary stomatocytosis: The blood smear is crucial in this very rare clinical picture. MCV - mean corpuscular volume MCHC - mean hemoglobin concentration Leg ulcers may occur in elderly patients.Ī classification of hereditary spherocytosis based on clinical severity can be found in Table 4. The chronically increased hemolysis can lead to extramedullary hematopoiesis with the clinical picture of intrathoracic, paravertebral tumors even in patients with a mild form of progression - who were not splenectomized - after decades of progression. The course is usually mild in young adults and blood transfusion is not required. Hemolytic crises occur repeatedly, especially in the setting of intercurrent infections. Before making the diagnosis of secondary hemochromatosis in HS, primary causes such as HFE-associated hereditary hemochromatosis must be excluded. Cardiovascular complications, extramedullary hematopoiesis, or secondary hemochromatosis are rare. It may result in a severe drop in hemoglobin concentration, requiring blood transfusion. Hemolytic crises occur repeatedly, especially in the context of intercurrent infections. Most frequently after first time infection with parvovirus B19 Table 3: Typical complications of hereditary spherocytosis
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