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Book

Hereditary Spherocytosis

Edgar A. Zamora  1 , Catherine A. Schaefer  2
In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2025 Jan.
.
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Book

Hereditary Spherocytosis

Edgar A. Zamora et al.
Free Books & Documents

Excerpt

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. Erythrocytes are unable to maintain their normal biconcave shape due to genetic mutations in membrane/cytoskeletal proteins that play a role in structural morphologic stability. Deficient or abnormal proteins may include spectrin, ankyrin, band 3, and band 4.2, encoded by different genes. The clinical manifestations vary based on the severity of disease and the type of genetic mutation.

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Conflict of interest statement

Disclosure: Edgar Zamora declares no relevant financial relationships with ineligible companies.

Disclosure: Catherine Schaefer declares no relevant financial relationships with ineligible companies.

References

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