Hereditary Spherocytosis And Hereditary Elliptocytosis

The hereditary spherocytosis and hereditary elliptocytosis are congenital red cell membrane defects. Her symptoms include anemia of variable severity, jaundice and splenomegaly. Diagnosis requires the detection of reduced osmotic resistance of erythrocytes and a negative direct antiglobulin test. In patients <45 years splenectomy is required only in rare cases.

The hereditary spherocytosis (chronic familial jaundice, congenital hemolytic jaundice, familial spherocytosis, ball-cell disease) is an autosomal dominant and has a variable degree of Genpenetranz. It is characterized by hemolysis of spherical erythrocytes and the presence of anemia.

The hereditary spherocytosis and hereditary elliptocytosis are congenital red cell membrane defects. Her symptoms include anemia of variable severity, jaundice and splenomegaly. Diagnosis requires the detection of reduced osmotic resistance of erythrocytes and a negative direct antiglobulin test. In patients <45 years splenectomy is required only in rare cases. The hereditary spherocytosis (chronic familial jaundice, congenital hemolytic jaundice, familial spherocytosis, ball-cell disease) is an autosomal dominant and has a variable degree of Genpenetranz. It is characterized by hemolysis of spherical erythrocytes and the presence of anemia. The hereditary elliptocytosis (ovalocytosis) is a rare autosomal dominant disease in which the red cells are oval or elliptical in shape. Hemolysis and anemia are usually only weak or not at all before. By contrast, splenomegaly is often present. Pathophysiology In both diseases, the shape changes caused by changes in the membrane proteins of erythrocytes. In hereditary spherocytosis the cell surface is reduced disproportionately in relation to the cell contents. This increases the flexibility of the cell is limited, but this is necessary in order to be able to pass the microvessels in the spleen. As a result, it comes in the spleen hemolysis. In hereditary elliptocytosis genetic mutations lead to weakness of the cytoskeleton, resulting in deformation of the cell. The odd-shaped red blood cells are sequestered in the spleen. Symptoms and signs The symptoms and clinical signs of hereditary spherocytosis are usually weak. The anemia can be so well compensated that it is the reduced red cell production temporarily in the sense of aplastic crisis only with a viral infection, notes. However, these episodes are self-limiting and end after healing of the infection. In severe cases, a moderate jaundice and symptoms of anemia may occur. Splenomegaly occurs, but caused only in rare cases, abdominal discomfort. Also hepatomegaly may be present. Cholelithiasis (pigment stones) is common and may represent the first perceived symptom. Occasionally hereditary skeletal anomalies can (z. B. turricephaly, Polydactyly) occur. Although usually one or more family members show the same symptoms, even several generations can be skipped, because the degree of Genpenetranz is variable. The clinical signs of hereditary elliptocytosis similar to those of hereditary spherocytosis, but are less pronounced. Diagnostic study of the osmotic resistance of erythrocytes, the Erythrozytenautohämolyse and direct antiglobulin (Coombs) test Suspicion of this disease, patients with unexplained hemolysis, especially when splenomegaly, a family history of similar symptoms or suspicious red cell indices are present. Since erythrocytes are ball-shaped cell, the mean corpuscular volume is normal. The mean corpuscular diameter is reduced, and the erythrocytes are similar microspherocytes. The MCHC is increased. A Reticulocytosis of 15-30% and leukocytosis are common. Spherocytes haemolytic anemia with permission of the publisher. From Tefferi A., Li C. In Atlas of Clinical Hematology. Edited by J. O. Armitage. Philadelphia, Current Medicine, 2004. var model = {thumbnailUrl: '/-/media/manual/professional/images/spherocytes_hemolytic_anemia_high_de.jpg?la=de&thn=0&mw=350' imageUrl: '/ - / media / manual / professional / images / spherocytes_hemolytic_anemia_high_de.jpg lang = en & thn = 0 ', title:'? spherocytes haemolytic anemia ', description:' u003Ca id = "v37895101 " class = ""anchor "" u003e u003c / a u003e u003cdiv class = ""para "" u003e u003cp u003eSphärozyten have in the peripheral blood smear either a hereditary spherocytosis (HS) or autoimmune hemolytic anemia (AIHA) out. Spherocytes have increased osmotic fragility (due to the reduced ductility by a reduced membrane surface) in hypotonic saline; this test (on osmotic fragility) is positive in HS and AIHA. Means antiglobulin (Coombs) test can distinguish between the two diseases; the result is positive for AIHA and negative in HS u003c / p u003e u003c / div u003e. 'credits' With permission of the publisher. From Tefferi A.

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