Symptoms includejaundice, fatigue, shortness of breath, and a swollen abdomen due to anenlarged spleen.
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Causes
Hereditary spherocytosis is a rarecongenital disorderpassed from parents to children.
However, some people don’t show symptoms until they are well in their 30s or 40s.
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In this case, the parent would likely also have hereditary spherocytosis.
Symptoms
Symptoms of spherocytosis range from mild to severe.
They are caused when large numbers of spherocytes start to affect the spleen and other organs.
The physical exam would involvepalpation(light touching) of the abdomen to check for signs of spleen enlargement.
If spherocytosis is suspected, a battery of blood tests can confirm the diagnosis.
With that said, there is no single test able to diagnose spherocytosis.
The diagnosis is based on an overall assessment of test values.
Differential Diagnoses
Hereditary spherocytosis shares similar features withhemolytic anemia.
This is a form of anemia in which red blood cells are destroyed faster than new ones are produced.
In the process, some of the red blood cells can become damaged rather than killed.
causing their cytoskeletons to weaken and bulge into spherocytes.
Only a handful of causes are associated with the excessive production of spherocytes.
Treatment
There is currently no cure for hereditary spherocytosis.
The focus of treatment is placed on the management of symptoms and the avoidance of complications.
Early treatment affords better returns.
With appropriate treatment, an adult or child with spherocytosis can expect a normal life expectancy.
When needed, splenectomy can significantly reduce symptoms of spherocytosis and improve a person’s quality of life.
Summary
Spherocytosis is an inherited red blood cell disorder passed from parents to children.
Symptoms include fatigue, upper left abdominal swelling, irregular heartbeats, and jaundice.
Spherocytosis is diagnosed with blood tests.
Department of Health and Human Services.Hereditary spherocytosis.
2024 Sep 27;16(9):e70308.
doi:10.7759/cureus.70308
Manciu S, Matei E, Trandafir B.Hereditary spherocytosis - diagnosis, surgical treatment and outcomes.
