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- Hereditary spherocytosis is a condition that affects red blood cells. People with this condition typically experience a shortage of red blood cells (anemia), yellowing of the eyes and skin (jaundice), and an enlarged spleen (splenomegaly).
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Jul 4, 2023 · 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. [1]
- Edgar A. Zamora, Catherine A. Schaefer
- 2023/07/04
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What is inherited spherocytosis?
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What is spherocytosis & how is it treated?
In about 75 percent of cases, hereditary spherocytosis is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In some cases, an affected person inherits the mutation from one affected parent.
- What Is Hereditary spherocytosis?
- Who Is Affected by Hereditary spherocytosis?
- How Does Hereditary Spherocytosis Affect My body?
Hereditary spherocytosis is an inherited blood disorder that causes hemolytic anemia. This anemia happens when your red blood cellsbreak down faster than normal. In hereditary spherocytosis, your red blood cells lose their characteristic disk-like shape, becoming round or spherical cells (spherocytes) that are removed from circulation faster than n...
Hereditary spherocytosis typically affects people who have Northern Europe or North American ancestry. (Northern Europe is the northern part or region of the European continent.) Data vary on how many people have hereditary spherocytosis. Healthcare providers estimate that 1 person in 2,000 to 5,000 people worldwide may have hereditary spherocytosi...
In addition to developing hemolytic anemia, most people who have hereditary spherocytosis may have the following conditions: 1. Enlarged spleen (splenomegaly): People develop enlarged spleens in hereditary spherocytosis when their spleens fill up with spherocytes. Blood cells flow through your spleen, navigating several narrow passages before movin...
Oct 25, 2023 · It is a result of heterogeneous alterations in one of five genes that encode red blood cell (RBC) membrane proteins involved in vertical associations that link the membrane cytoskeleton to the lipid bilayer. The genetics, pathophysiology, clinical features, diagnosis, and treatment of HS will be reviewed here.
Feb 16, 2022 · Spherocytosis is a red blood cell disorder that is usually inherited. It is a lifelong disease that causes red blood cells to be susceptible to excessive hemolysis (breakdown) due to a defect in the membranes of the red blood cells.
Hereditary spherocytosis (HS) is a congenital hemolytic disorder wherein a genetic mutation coding for a structural membrane protein phenotype causes the red blood cells to be sphere-shaped (spherocytosis), rather than the normal biconcave disk shape.
2 days ago · Hereditary spherocytosis is an inherited abnormality of the red blood cell, caused by defects in structural membrane proteins. It is the most common form of inherited haemolytic anaemia in the US and northern Europe.
