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- Mutations in at least five genes cause hereditary spherocytosis. These genes provide instructions for producing proteins that are found on the membranes of red blood cells. These proteins transport molecules into and out of cells, attach to other proteins, and maintain cell structure.
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Jul 4, 2023 · Hereditary spherocytosis results from a deficiency in one or more proteins involved in maintaining adequate adherence between the cytoskeleton and bilipid membrane. As the cellular surface is unable to be adequately supported by the cytoskeleton, the cell adopts an abnormal sphere shape that decreases surface to volume relationship.
- Edgar A. Zamora, Catherine A. Schaefer
- 2023/07/04
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What are the features of hereditary spherocytosis?
How does hereditary spherocytosis affect red blood cells?
What is inherited spherocytosis?
What is the difference between spherocytosis and HS?
Oct 25, 2023 · INTRODUCTION. Although relatively rare, hereditary spherocytosis (HS) is the most common cause of hemolytic anemia due to a red cell membrane defect. 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 ...
- 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...
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.
Oct 24, 2021 · Hereditary spherocytosis (HS) is a hereditary hemolytic anemia caused by the mutations in the genes encoding erythrocyte membrane proteins and is mostly inherited in an autosomal dominant manner. 1, 2, 3 HS is classified into four types according to the severity of the disease: trait, mild, moderate, and severe. Commonly, there is heterogeneity ...
- Yangyang Wu, Lin Liao, Faquan Lin
- J Clin Lab Anal. 2021 Dec; 35(12): e24034.
- 10.1002/jcla.24034
- 2021/12
Description. 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).
Jan 1, 2024 · The features of hereditary spherocytosis are usually: Anaemia. Yellowing of your skin and of the whites of your eyes ( jaundice ). A large spleen. These features can happen at any time of life. Anaemia means that you have fewer red blood cells than normal, or you have less haemoglobin than normal in each red blood cell.
