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Hereditary spherocytosis
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In hereditary spherocytosis the red blood cell is formed with a defective membrane, the outer covering that gives it its shape, and it is destroyed too early. When anemia comes from red blood cells being destroyed this way, it is called hemolytic, and among the hemolytic anemias caused by an abnormal membrane this is the most common.
The defect lies in proteins of the red blood cell membrane: mainly spectrin, and also ankyrin, band 3, or band 4.2. These proteins anchor the cytoskeleton, the cell's internal scaffolding, to the lipid bilayer that wraps around the cell. When that anchoring fails, the membrane is lost piece by piece.
It is like a disc losing surface area until it rounds into a ball. The erythrocyte, which is the technical name for the red blood cell, loses its biconcave shape, like a disc indented on both sides, and turns into a sphere. Those spheres are called spherocytes, and they are destroyed as they pass through the spleen.
In brief
Hereditary spherocytosis is a congenital disorder and the most common cause of hemolytic anemia from an abnormal red blood cell membrane.
Membrane proteins are missing, mainly spectrin, and also ankyrin, band 3, or band 4.2, leaving the cytoskeleton poorly anchored to the lipid bilayer, so the membrane is gradually lost.
Red blood cells lose their biconcave shape and become spheres; these spherocytes are destroyed as they pass through the spleen.
It is like a disc losing surface area until it rounds into a ball.
Sources (1)
- National Center for Biotechnology Information, StatPearls PublishingHereditary Spherocytosis, StatPearlsPublished
This page explains the topic in general terms; it does not tell anyone what treatment to follow.
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