Hereditary Spherocytosis (HS) is a red blood cell disorder where the cells take on a shape of a ball (or sphere) instead of the normal shape of a red cell (which looks like a doughnut). Because the red cells are in the shape of a ball they are more fragile than normal red cells.

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2019-05-09

The disease usually is inherited as an autosomal dominant trait; although a few people with hereditary spherocytosis may develop it secondary to new mutations. Hereditary spherocytosis is caused by a variety of molecular defects in the genes that code for the red blood cell proteins spectrin (alpha and beta), ankyrin, band 3 protein, protein 4.2, and other red blood cell membrane proteins: These proteins are necessary to maintain the normal shape of a red blood cell, which is a biconcave disk. Hereditary spherocytosis (HS) is the most prevalent cause of hemolytic anemia due to an abnormal red cell membrane and classifies as a type of congenital hemolytic anemia. Oskar Minkowsky first described it in the early 1900s. Spherocytosis is the presence in the blood of spherocytes, i.e erythrocytes (red blood cells) that are sphere-shaped rather than bi-concave disk shaped as normal. Spherocytes are found in all hemolytic anemias to some degree. Rare causes of spherocytosis include thermal injury, clostridial septicemia with exotoxemia, and Wilson disease, each of which may present as a hemolytic anemia.

Spherocytosis causes

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Mendelian mutations in ALAS2 are a cause of sideroblastic anemia and a gene mutated in Mendelian non-spherocytic hemolytic anemia, associated with 

Jaundice. When a blood cell breaks down, the pigment bilirubin is released. If your red blood cells break down too Gallstones. Excess bilirubin can also cause 2018-06-19 · Hereditary spherocytosis may be caused by changes (mutations) in any of several genes.

Spherocytosis causes

6 Nov 2014 Most likely causes were G-6 PD deficiency and hereditary spherocytosis. With capsule phototherapy indirect hyperbilirubinemia was.

Se hela listan på ihtc.org Hereditary spherocytosis is an abnormality of red blood cells, or erythrocytes. The disorder is caused by mutations in genes relating to membrane proteins that allow for the erythrocytes to change shape. The abnormal erythrocytes are sphere-shaped ( spherocytosis) rather than the normal biconcave disk shaped.

The abnormal red blood cells are fragile and possess a short life span as compared to normal red blood cells. Other hereditary spherocytosis symptoms and signs 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.
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Spherocytosis causes

Hereditary spherocytosis is caused by a genetic defect. If you have a family history of this disorder, your chances of developing it are higher than someone who does not. People of any race can Causes of Spherocytosis A number of genetic defects may cause spherocytosis.

When a blood cell breaks down, the pigment bilirubin is released. If your red blood cells break down too Gallstones. Excess bilirubin can also cause 2018-06-19 · Hereditary spherocytosis may be caused by changes (mutations) in any of several genes. These genes give the body instructions to make proteins that exist on the membranes of red blood cells .
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Anemia: Spherocytosis causes red blood cells to break down faster than healthy cells, which can cause anemia.