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Hereditary spherocytosis and hereditary elliptocytosis: causes, symptoms, diagnosis, treatment
Last reviewed: 04.07.2025

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Hereditary spherocytosis and hereditary elliptocytosis are congenital abnormalities of the red blood cell membrane. In hereditary spherocytosis and elliptocytosis, symptoms are usually mild and include varying degrees of anemia, jaundice, and splenomegaly. Decreased red blood cell osmotic resistance and a negative direct antiglobulin test are required to confirm the diagnosis. Rarely, patients younger than 45 years require splenectomy.
Causes hereditary spherocytosis and elliptocytosis.
Hereditary spherocytosis (chronic familial jaundice, hereditary hemolytic jaundice, familial spherocytosis, spherocytic anemia) is an autosomal dominant disease with various gene mutations. The disease is characterized by hemolysis of spheroidal erythrocytes and the development of anemia.
Pathogenesis
Disturbances in the structure of membrane proteins lead to anomalies of red blood cells in both diseases. In hereditary spherocytosis, the outer membrane of the cell membrane is reduced disproportionately to the intracellular content. The reduction in the outer membrane of the cell reduces its elasticity, and when passing through the microcirculatory bed in the spleen, hemolysis develops.
Symptoms hereditary spherocytosis and elliptocytosis.
The symptoms and complaints of hereditary spherocytosis are usually moderate, anemia may be well compensated and not recognized until the next viral infection, which transiently reduces the production of red blood cells, stimulating the development of aplastic crisis. However, these manifestations disappear with the end of the infection. In severe cases, moderate icterus and symptoms of anemia are observed. Splenomegaly is almost always present, which rarely leads to abdominal discomfort. Hepatomegaly may develop. Cholelithiasis (pigment stones) is common and can cause characteristic symptoms. Congenital skeletal abnormalities (eg, "tower" skull, polydactyly) are rare. Although usually one or more family members have signs of the disease, some families may not have them, which is caused by different variations in the degree of gene mutation.
The clinical features of hereditary elliptocytosis are similar to those of hereditary spherocytosis, but with milder manifestations.
Diagnostics hereditary spherocytosis and elliptocytosis.
These diseases are suspected in patients with unexplained hemolysis, especially if there is splenomegaly, a family history of similar clinical manifestations, or characteristic red cell indices. Because the red blood cells are spheroidal and the MCV is within normal limits, the mean particle diameter is below normal, and the red blood cells resemble microspherocytes, the MCHC is increased. Reticulocytosis from 15 to 30% and leukocytosis are typical.
If these diseases are suspected, the following studies are performed: determination of the osmotic resistance of red blood cells (in which red blood cells are placed in saline solutions of varying concentrations), a test for autohemolysis of red blood cells (measuring the level of spontaneous hemolysis after 48 hours of incubation under sterile conditions) to exclude spherocytosis caused by autoimmune hemolytic anemia, a direct antiglobulin test (Coombs). A decrease in the osmotic resistance of red blood cells is characteristic, but in mild cases it may be normal, with the exception of a test in which sterile defibrinated blood is incubated at 37 ° C for 24 hours. Autohemolysis of red blood cells is increased and can be corrected by adding glucose. The direct antiglobulin Coombs test is negative.
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Treatment hereditary spherocytosis and elliptocytosis.
The only specific treatment for these diseases is splenectomy, which is performed after pneumococcal vaccination in children, but is rarely necessary in adults. Splenectomy is indicated in patients younger than 45 years who have a persistent hemoglobin level of less than 100 g/L, jaundice, hepatic colic, or persistent aplasia. If the gallbladder contains stones or there is evidence of cholestasis, it should be removed during splenectomy. Although spherocytosis persists after splenectomy, the life span of the cells in circulation is increased. Symptoms of anemia and reticulocytosis disappear, but red blood cell fragility remains high.