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Hereditary elliptocytosis, also known as ovalocytosis, is an inherited blood disorder in which an abnormally large number of the person's red blood cells are elliptical rather than the typical biconcave disc shape. Such morphologically distinctive erythrocytes are sometimes referred to as elliptocytes or ovalocytes.
Elliptocytes, also known as ovalocytes or cigar cells, 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 .
Normal red blood cells are round, flattened disks that are thinner in the middle than at the edges. A poikilocyte is an abnormally-shaped red blood cell. [1] Generally, poikilocytosis can refer to an increase in abnormal red blood cells of any shape, where they make up 10% or more of the total population of red blood cells.
Several tests can help to elucidate the underlying cause of a person's macrocytic anemia. A peripheral blood smear is often recommended as a first step in the evaluation to determine if the macrocytic anemia has megaloblastic features since the causes of megaloblastic and non-megaloblastic macrocytic anemia differ and making this distinction ...
Diagnosis is based on presence of ovalocytes on a peripheral blood smear in absence of haemolysis, and should be differentiated from other forms of hereditory elliptocytosis and hereditary spherocytosis. Genetic assays such as PCR amplification may be used to confirm mutation of the SLC4A1 gene. [5]
Polychromatic red blood cells appear bluish-gray on the blood smear. Polychromasia is a disorder where there is an abnormally high number of immature red blood cells found in the bloodstream as a result of being prematurely released from the bone marrow during blood formation ( poly - refers to many , and -chromasia means color .)
Macroovalocytes are enlarged, oval-shaped erythrocytes (red blood cells). They are not seen in healthy blood, and are most commonly seen in megaloblastic anemia. [1] In most instances, the macroovalocyte morphology is due to megaloblastic erythropoiesis (Vitamin B-12 or folate deficiency) but may be seen with dyserythropoiesis.
Anisocytosis is a medical term meaning that a patient's red blood cells are of unequal size. This is commonly found in anemia and other blood conditions. False diagnostic flagging may be triggered on a complete blood count by an elevated WBC count, agglutinated RBCs, RBC fragments, giant platelets or platelet clumps due to anisocytosis.