Hereditary Spherocytosis
What is Hereditary Spherocytosis?
Hereditary spherocytosis is an inherited blood disorder that affects the outer membrane of red blood cells. In this condition, red blood cells become sphere-shaped instead of their normal disk shape. These spherical cells are fragile and break down too early in the spleen.
Most people inherit this condition from one parent who carries the gene mutation. About 25% of cases happen without a family history due to new genetic changes. The condition affects about 1 in 2,000 people of Northern European ancestry.
When red blood cells break down too quickly, it causes anemia, which means low hemoglobin levels. The spleen removes these abnormal cells faster than the body can replace them. This process is called hemolysis. Severity ranges from mild cases with few symptoms to severe anemia requiring regular medical care.
Symptoms
- Fatigue and weakness from anemia
- Pale skin and mucous membranes
- Jaundice, which is yellowing of the skin and eyes
- Enlarged spleen that may cause abdominal discomfort
- Dark urine from breakdown products of red blood cells
- Gallstones, often developing in childhood or young adulthood
- Shortness of breath during physical activity
Some people with mild hereditary spherocytosis have no symptoms and discover the condition only through routine blood testing. Others experience symptoms during infections or stress when red blood cell breakdown increases.
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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 maintain the cell's flexible disk shape. When the proteins are defective, cells lose membrane surface area and become spherical. The most commonly affected proteins include spectrin, ankyrin, band 3, and protein 4.2.
Most cases follow an autosomal dominant pattern, meaning one copy of the mutated gene from either parent can cause the condition. About 75% of people with hereditary spherocytosis have an affected parent. The remaining 25% have new mutations. Risk factors include Northern European ancestry and family history of anemia, jaundice, or early gallstones.
How it's diagnosed
Hereditary spherocytosis is diagnosed through blood tests that reveal specific patterns. A complete blood count shows anemia with hemoglobin levels that vary based on disease severity. Mean corpuscular volume is normal or slightly decreased. Mean corpuscular hemoglobin concentration is often elevated, which is unusual in other types of anemia. Red cell distribution width may be increased, showing variation in cell size.
Urine urobilinogen is elevated due to chronic breakdown of red blood cells. A blood smear examined under a microscope shows the characteristic sphere-shaped cells. Additional tests may include an osmotic fragility test or specialized genetic testing. Rite Aid offers blood testing that measures hemoglobin, mean corpuscular volume, mean corpuscular hemoglobin concentration, red cell distribution width, and urine urobilinogen at Quest Diagnostics locations nationwide.
Treatment options
- Folic acid supplementation to support red blood cell production
- Splenectomy, which is surgical removal of the spleen for moderate to severe cases
- Iron monitoring and supplementation if needed
- Prompt treatment of infections to prevent hemolytic crises
- Gallbladder removal if gallstones develop
- Regular monitoring of blood counts and liver function
- Blood transfusions during severe anemic episodes
- Adequate hydration and nutrition to support overall health
Concerned about Hereditary Spherocytosis? Get tested at Rite Aid.
- Simple blood draw at your nearest lab
- Results in days, not weeks
- Share results with your doctor
Frequently asked questions
Hereditary spherocytosis is caused by genetic mutations affecting red blood cell membrane proteins. These mutations change proteins like spectrin, ankyrin, or band 3 that maintain cell shape. About 75% of people inherit the condition from a parent, while 25% have new genetic changes.
This condition causes distinctly spherical red blood cells instead of the normal disk shape. Blood tests show an elevated mean corpuscular hemoglobin concentration, which is rare in other anemias. The anemia results from the spleen destroying abnormally shaped cells rather than problems making new cells.
The genetic cause cannot be cured, but splenectomy eliminates most symptoms in moderate to severe cases. Removing the spleen prevents destruction of spherical cells, so hemoglobin levels usually return to normal. People with mild cases often need no treatment beyond folic acid supplementation and monitoring.
Key blood tests include hemoglobin to assess anemia severity, mean corpuscular volume, and mean corpuscular hemoglobin concentration. Red cell distribution width shows variation in cell size. Elevated urine urobilinogen indicates ongoing breakdown of red blood cells in the spleen.
Most people with this condition live normal lives with proper management. Severe cases may require splenectomy to prevent complications. The main risks include gallstones, severe anemia during infections, and rarely aplastic crisis when bone marrow temporarily stops making red blood cells.
Chronic breakdown of red blood cells releases bilirubin, a yellow pigment. High bilirubin levels in bile can form pigmented gallstones. Many people with hereditary spherocytosis develop gallstones by their 20s or 30s, often before the underlying blood disorder is diagnosed.
Schedule urgent care for fever above 101 degrees, severe fatigue, very pale skin, or dark urine. Infections can trigger hemolytic crises where red blood cells break down rapidly. Regular monitoring appointments every 6 to 12 months help track blood counts and detect complications early.
Most people with mild to moderate cases can exercise without restrictions. Those with severe anemia may experience fatigue or shortness of breath during intense activity. After successful splenectomy, exercise tolerance typically improves as hemoglobin levels normalize.
Hemoglobin levels usually return to normal or near normal within weeks. Spherical red blood cells remain but survive longer without the spleen removing them. People need lifelong vaccinations against certain bacteria and should take antibiotics promptly for fevers to prevent serious infections.
Yes, first-degree relatives like parents, siblings, and children should consider testing. About 75% of cases are inherited, so family members may have mild undiagnosed disease. Early detection helps prevent complications and guides decisions about having children.