Hereditary spherocytosis
What is Hereditary spherocytosis?
Hereditary spherocytosis is a genetic blood disorder that affects the outer membrane of red blood cells. The condition causes red blood cells to become sphere-shaped instead of their normal disc shape. These sphere-shaped cells are fragile and break down too quickly in the spleen.
When red blood cells break down faster than your body can replace them, you develop anemia. This means your body doesn't have enough healthy red blood cells to carry oxygen throughout your tissues. The condition is inherited from one or both parents through specific gene mutations.
Hereditary spherocytosis affects about 1 in 2,000 people of Northern European descent. The severity ranges from mild to severe depending on which genes are affected. Some people have few symptoms while others experience significant anemia that requires medical care.
Symptoms
Common symptoms of hereditary spherocytosis include:
- Fatigue and weakness from anemia
- Pale skin and mucous membranes
- Jaundice or yellowing of the skin and eyes
- Enlarged spleen felt as fullness in the left upper abdomen
- Gallstones, sometimes causing abdominal pain
- Shortness of breath during physical activity
- Dark-colored urine from red blood cell breakdown
- Episodes of worsening anemia triggered by infections
Many people with mild hereditary spherocytosis have no symptoms until adulthood. Some are only diagnosed when routine blood work shows anemia or jaundice.
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Causes and risk factors
Hereditary spherocytosis is caused by genetic mutations that affect proteins in the red blood cell membrane. These proteins normally help red blood cells maintain their flexible disc shape. When the membrane structure is weak, cells become round and rigid. The spleen recognizes these abnormal sphere-shaped cells and removes them from circulation.
The condition is usually inherited in an autosomal dominant pattern. This means you only need to inherit one mutated gene from one parent to develop the disorder. About 75% of cases follow this pattern. In the remaining 25%, both parents carry mutations or the condition appears spontaneously without family history. Risk factors include having a parent with hereditary spherocytosis or Northern European ancestry.
How it's diagnosed
Hereditary spherocytosis is diagnosed through a combination of blood tests, family history, and physical examination. Blood tests show low red blood cell count and signs of hemolysis, which is the breakdown of red blood cells. A peripheral blood smear reveals the characteristic sphere-shaped cells under a microscope. Additional tests may include reticulocyte count, bilirubin levels, and specialized tests like osmotic fragility or eosin-5-maleimide binding.
Regular blood testing helps monitor hereditary spherocytosis and detect hemolytic episodes early. Rite Aid's testing service includes red blood cell count measurement, which tracks anemia severity and treatment response. Testing twice per year helps you and your doctor understand how your condition changes over time and whether interventions are working.
Treatment options
Treatment for hereditary spherocytosis depends on severity and includes:
- Folic acid supplements to support red blood cell production
- Splenectomy or surgical removal of the spleen for moderate to severe cases
- Blood transfusions during severe anemic episodes
- Gallbladder removal if gallstones develop
- Prompt treatment of infections to prevent hemolytic crises
- Regular monitoring with blood tests to track red blood cell levels
- Avoiding triggers that worsen hemolysis like certain medications
- Vaccinations before splenectomy to prevent infections
Many people with mild hereditary spherocytosis need no treatment beyond monitoring. Those with moderate or severe forms benefit from splenectomy, which stops the premature destruction of red blood cells. Work with a hematologist to create a care plan tailored to your specific needs.
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Frequently asked questions
Hereditary spherocytosis is not curable because it is a genetic condition. However, splenectomy can eliminate most symptoms in moderate to severe cases by preventing the spleen from destroying abnormal red blood cells. After splenectomy, most people have normal hemoglobin levels and few symptoms. Mild cases often require no treatment at all.
Hereditary spherocytosis is a hemolytic anemia caused by genetic membrane defects in red blood cells. Unlike iron deficiency anemia, the problem is not lack of iron but premature cell destruction. The sphere-shaped cells visible on blood smears distinguish it from other anemias. It also runs in families, while many other anemias do not have a genetic cause.
Hereditary spherocytosis severity is usually stable throughout life. However, infections can trigger temporary hemolytic crises where anemia suddenly worsens. Gallstones become more common with age due to chronic hemolysis. Regular monitoring helps detect changes early. Treatment with splenectomy prevents progression in moderate to severe cases.
Infections are the most common trigger for hemolytic crises. Viral illnesses like parvovirus B19 can temporarily stop red blood cell production, worsening anemia rapidly. Bacterial infections increase the rate of red blood cell destruction. Stress, dehydration, and certain medications can also worsen hemolysis. Prompt medical attention during infections helps prevent severe crises.
Most people with hereditary spherocytosis do not need major dietary changes. Taking daily folic acid supplements is important because your body uses more folate to produce replacement red blood cells. Eating foods rich in folate like leafy greens, beans, and fortified grains also helps. Stay well hydrated and maintain a balanced diet to support overall health.
Testing frequency depends on your severity and treatment status. People with mild hereditary spherocytosis may need blood tests once or twice per year. Those with moderate to severe disease or recent treatment need more frequent monitoring. Regular red blood cell counts help track anemia and detect problems early. Your hematologist will recommend a testing schedule based on your specific situation.
Most people with mild hereditary spherocytosis can exercise normally without restrictions. Those with moderate to severe anemia may experience fatigue and shortness of breath during intense activity. Listen to your body and rest when needed. After splenectomy, most people return to full activity levels. Talk to your doctor about appropriate exercise for your specific condition severity.
If you have hereditary spherocytosis, each child has a 50% chance of inheriting the condition when it follows autosomal dominant inheritance. Genetic counseling can help you understand your specific mutation and inheritance pattern. Some cases result from new mutations with no family history. Testing family members helps identify who carries the condition and may need monitoring.
Splenectomy carries surgical risks like bleeding, infection, and blood clots. After splenectomy, you have increased risk of certain bacterial infections throughout life. Vaccinations before surgery and sometimes preventive antibiotics reduce this risk. Most people experience significant improvement in anemia and symptoms after the procedure. Your doctor will weigh the benefits against risks based on your disease severity.
Pregnancy can worsen anemia in women with hereditary spherocytosis because blood volume increases and more red blood cells are needed. Folic acid supplementation is especially important during pregnancy. Most women with mild to moderate disease have successful pregnancies with close monitoring. Your obstetrician and hematologist should work together to manage your care throughout pregnancy and delivery.