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Hereditary spherocytosis
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Conditions

Hereditary spherocytosis

Hereditary spherocytosis is an inherited condition affecting red blood cells, often leading to anemia, jaundice, and an enlarged spleen.

Overview

Hereditary spherocytosis is a condition where red blood cells are misshapen and rigid, leading to their premature destruction. Common symptoms include a shortage of red blood cells (anemia), yellowing of the eyes and skin (jaundice), and an enlarged spleen (splenomegaly).

Severity and Symptoms

There are four forms of the condition, distinguished by severity:

  • Mild: May involve very mild or no anemia.
  • Moderate: Typically involves anemia, jaundice, and splenomegaly; many develop gallstones.
  • Moderate/Severe: Includes all features of the moderate form plus severe anemia.
  • Severe: Characterized by life-threatening anemia requiring frequent blood transfusions, severe splenomegaly, and a high risk of gallstones. Some individuals may experience short stature, delayed sexual development, and skeletal abnormalities.

Causes

The condition is caused by mutations in at least five genes (including ANK1 and SLC4A1) that provide instructions for proteins on the membranes of red blood cells. These proteins maintain cell structure and flexibility. Mutations result in spherical, rigid cells (spherocytes) that cannot easily pass through narrow blood vessels. These cells are removed from circulation and destroyed by the spleen, leading to the clinical symptoms of the disorder.

Inheritance

  • Autosomal Dominant: Accounts for about 75 percent of cases; one copy of the altered gene is sufficient to cause the disorder.
  • Autosomal Recessive: In some cases, both copies of the gene in each cell must have mutations. Parents of affected individuals typically do not show symptoms.

Frequently Asked Questions

Because hemolysis increases bilirubin production, gallstones are common. Maintaining adequate hydration, a balanced diet low in saturated fats, and regular moderate exercise can help reduce bile stasis. Some clinicians recommend a low‑fat diet and avoiding rapid weight loss. In patients with recurrent gallstone attacks, early cholecystectomy may be considered.
Splenectomy is usually considered when hemolysis is moderate to severe, causing significant anemia, jaundice, or gallstones, or when transfusions are needed frequently. Benefits include reduced hemolysis, improved hemoglobin levels, and fewer gallstone complications. Risks involve increased susceptibility to encapsulated bacterial infections (requiring lifelong penicillin prophylaxis or vaccination), thrombosis, and the possibility of post‑splenic sequestration crises. A thorough discussion with a hematologist and infectious disease specialist is essential before proceeding.
Diagnosis starts with a complete blood count showing anemia and a high reticulocyte count. A peripheral smear will reveal spherocytes—small, round red cells lacking the normal central pallor. Additional tests include a osmotic fragility test or eosin-5‑maleimide (EMA) binding assay to assess red cell membrane stability. Genetic testing for mutations in ANK1, SPTB, SPTA1, SLC4A1, or other related genes confirms the diagnosis and helps predict severity.
Severe hemolysis can lead to chronic anemia, which may delay growth and pubertal development. Monitoring growth parameters and pubertal milestones is important. In selected cases, recombinant growth hormone therapy has been used to address growth failure, but it must be balanced against the risk of exacerbating hemolysis. A multidisciplinary team—including a pediatric endocrinologist and hematologist—should evaluate the risks and benefits before initiating therapy.===
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

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