Table of Contents
What causes Elliptocyte?
Hereditary elliptocytosis is caused by a genetic change in either the EPB41, SPTA1, or SPTB gene, and is inherited in an autosomal dominant pattern. Hereditary pyropoikilocytosis is a related condition with more serious symptoms, and is inherited in an autosomal recessive pattern.
What is a normal Elliptocyte?
Elliptocytes, also known as ovalocytes, are abnormally shaped red blood cells that appear oval or elongated, from slightly egg-shaped to rod or pencil forms. They have normal central pallor with the hemoglobin appearing concentrated at the ends of the elongated cells when viewed through a light microscope.
Is elliptocytosis serious?
Elliptocytosis is often harmless. In mild cases, fewer than 15% of red blood cells are elliptical-shaped. However, some people may have crises in which the red blood cells rupture. This is more likely to happen when they have a viral infection.
What do Schistocytes look like?
Schistocytes are fragmented red blood cells that can take on different shapes. They can be found as triangular, helmet shaped, or comma shaped with pointed edges. Schistocytes are most often found to be microcytic with no area of central pallor.
Does Elliptocytosis cause anemia?
Hereditary spherocytosis and hereditary elliptocytosis are congenital red blood cell (RBC) membrane disorders that can cause a mild hemolytic anemia. Symptoms, generally milder in hereditary elliptocytosis, include variable degrees of anemia, jaundice, and splenomegaly.
Are schistocytes normal?
The presence of schistocytes (fragmented red blood cells) on the peripheral blood smear suggests red blood cell injury from damaged endothelium and is a characteristic feature of microangiopathic hemolytic anemia.
Is it normal to have schistocytes?
Schistocytes were observed in approximately 78% of normal individuals with a mean of 0.15% of all RBCs. This finding is different from that of a previous study by Burns et al. (3) where schistocytes were observed in 58% of normal individual.
Is hereditary elliptocytosis a rare disease?
Hereditary elliptocytosis (HE) is a rare clinically and genetically heterogeneous disorder of the red cell membrane characterized by manifestations ranging from mild to severe transfusion-dependent hemolytic anemia but with the majority of patients being asymptomatic.
What do elliptocytes look like on a blood smear?
They have normal central pallor with the hemoglobin appearing concentrated at the ends of the elongated cells when viewed through a light microscope. The ends of the cells are blunt and not sharp like sickle cells. Rare elliptocytes (less than 1%) on a peripheral blood smear are a normal finding.
What are elliptocytes in hereditary elliptocytosis?
Elliptocytes in a patient with hereditary elliptocytosis. Elliptocytes are elongated oval-shaped red blood cells. Very rare elliptocytes may be seen in normal blood smears.
What causes elliptocytes to be high?
Elliptocytes. Elliptocytes may be increased in iron deficiency anemia (where they are sometimes referred to as “pencil cells”) and marrow infiltrative processes (with teardrop cells). In hereditary elliptocytosis, caused by a red cell membrane structural defect, at least 25% of red cells are elliptocytes.
Which ultrasound findings are characteristic of hereditary elliptocytosis?
Ultrasound of the gallbladder may show gallstones. The diagnosis of hereditary elliptocytosis is usually made by coupling a family history of the condition with an appropriate clinical presentation and confirmation on a blood smear.