Hereditary Spherocytosis: Causes, Symptoms, and Treatment

Medically reviewed by Harsha Moole, MD, Internal Medicine. Last reviewed: October 23, 2026.

What kind of doctor treats Hereditary Spherocytosis?

A hematologist, a doctor who treats blood disorders, usually cares for hereditary spherocytosis. A genetic counselor can explain how it runs in families. A surgeon may be involved if the spleen or gallbladder needs to be removed. A direct primary care or concierge doctor can be a first stop for an evaluation and can refer you to a specialist when needed.

What is hereditary spherocytosis?

Hereditary spherocytosis (HS) is an inherited condition that affects red blood cells, the cells that carry oxygen. People with HS typically have anemia (too few red blood cells), jaundice (yellow skin and eyes), and an enlarged spleen. The spleen is an organ that removes misshapen red blood cells from the blood. HS affects about 1 in 2,000 people in North America.

HS comes in four forms: mild, moderate, moderate/severe, and severe. People with the mild form may have very mild anemia or no symptoms. Those with the severe form have life-threatening anemia that needs frequent blood transfusions.

Symptoms

Common signs of HS include:

  • Anemia, which can cause extreme tiredness and pale skin.
  • Jaundice, a yellow tone to the skin or eyes.
  • An enlarged spleen, which can cause stomach pain.
  • Gallstones, which are hard deposits in the gallbladder. About half of people with HS develop them.

Some people have hemolytic crises, times when more red blood cells break down than usual. Viral illness often triggers them. A megaloblastic crisis is caused by not having enough folate. Folate supplements can prevent it. An aplastic crisis is less common but more severe, and a virus such as parvovirus B19 often triggers it.

Causes and who gets it

HS is caused by changes in at least five genes. These genes make proteins in the outer layer of red blood cells. When the proteins are faulty, the cells become stiff and round instead of flat discs. These round cells are called spherocytes. The spleen removes and destroys them, which leads to anemia.

In about 75 percent of cases, HS follows an autosomal dominant pattern. This means one changed copy of the gene is enough. Some cases come from new gene changes in people with no family history. HS can also be passed down in an autosomal recessive pattern, which needs a changed gene from both parents.

How doctors diagnose it

Doctors first suspect HS from symptoms such as anemia, an enlarged spleen, or jaundice.

A blood test checks the red blood cell count and looks at the shape of the cells for spherocytes. Doctors also rule out autoimmune hemolytic anemia, in which the immune system destroys red blood cells.

If the answer is unclear, a special test called the EMA binding test can help. Genetic testing is not needed to diagnose HS, but it can give more information.

Treatment

Treatment depends on how severe HS is. Options include:

  • Folate supplements for people with moderate or severe HS and for all pregnant women with HS. They are probably not needed for mild HS.
  • Blood transfusions, which only a few people need. Most grow out of needing them.
  • Splenectomy, surgery to remove the spleen. It essentially cures HS. Doctors recommend it for severe HS but not for mild HS. For moderate HS, the choice depends on spleen size and quality of life.
  • Removal of the gallbladder, only if gallstones cause symptoms.

After a splenectomy, the risk of severe infection goes up. People are often given vaccines and preventive antibiotics to lower that risk. If possible, doctors delay the surgery until age 6 or older.

Children with HS should see a hematologist once a year. An ultrasound to look for gallstones can be done starting at age 5.

When to see a doctor

See a doctor if you or your child has yellow skin or eyes, extreme tiredness, pale skin, or belly pain. These are common signs in people with HS. If your child has severe HS, tell the doctor when a viral illness starts, because a blood count should be done during viral illnesses. Also call your doctor right away if tiredness or paleness suddenly gets worse during a viral illness, because an aplastic crisis can quickly worsen anemia.

Call 911 or go to the emergency room if you have trouble breathing, chest pain, fainting, or a sudden change in mental state, such as confusion.

How a direct primary care or concierge doctor fits in

A direct primary care doctor charges a flat monthly fee instead of billing insurance, while a concierge doctor usually charges more and often works alongside insurance. A doctor in this kind of practice can review your symptoms, order first blood tests, and help coordinate care with a hematologist. They can also help keep track of checkups, vaccines, and follow-up over time.

Common questions

Can hereditary spherocytosis be cured?

Yes, surgery to remove the spleen essentially cures HS, but it is not right for everyone. It raises the risk of severe infection, and it is not recommended for mild HS.

Is hereditary spherocytosis inherited?

Yes, it is. In about 75 percent of cases, one changed copy of the gene is enough to cause it. Some cases come from new gene changes in people with no family history.

Does everyone with HS need the spleen removed?

No. Doctors recommend it for severe HS and not for mild HS. For moderate HS, the choice depends on spleen size and quality of life.

Do people with HS get gallstones?

Yes, many do. About half of people with HS develop gallstones, usually from late childhood to mid-adulthood.

Sources

  1. MedlinePlus Genetics - Hereditary spherocytosis
  2. National Organization for Rare Disorders (NORD) - Hereditary Spherocytosis
  3. MedlinePlus - Hereditary spherocytic anemia (Medical Encyclopedia)

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