Spherocytosis: Symptoms, Causes, Diagnosis & Treatment

Hereditary spherocytosis, or HS, is an inherited blood disorder ⁷. It causes red blood cells to break down too soon ⁷.

This early breakdown is called hemolysis. It can lead to hemolytic anemia, which means too few healthy red cells ⁷.

Common effects include anemia, yellow skin or eyes, and an enlarged spleen. Doctors call yellow coloring jaundice and spleen swelling splenomegaly.

Signs may start at any age. Mild HS may remain unnoticed until adulthood ².

This guide explains how HS affects red cells. It also covers its signs, causes, blood tests, and care options.

HS affects the outer membrane of red blood cells ². Healthy red cells have a thin, flexible disk shape ⁷.

This shape helps them squeeze through small blood vessels ⁵. They can then return to their usual form ⁷.

Gene changes can harm proteins that support the red cell membrane ⁵. These defects weaken the link between the membrane and its inner frame.

The cells lose some membrane material and become round. Doctors call these round cells spherocytes.

Spherocytes are more rigid than healthy red cells ⁵. They cannot change shape as well when moving through small blood vessels ⁵.

Under a microscope, spherocytes look small and round. They also lack the pale center seen in healthy red cells.

The spleen filters old and damaged red cells from the blood ⁷. Round, rigid cells can become trapped inside it ^5,7.

The spleen removes and breaks down these trapped cells ⁵. This process shortens the cells’ life span ³.

The early loss of red cells can cause anemia ³. The bone marrow may work harder to replace the missing cells ⁸.

Red cell breakdown also produces bilirubin, a waste product ⁷. High bilirubin can cause jaundice or form gallstones ⁷.

The spleen may grow larger as it holds more abnormal cells ⁷. Spleen swelling may cause pain in the upper-left abdomen ⁷.

Doctors group HS into four forms based on its effects. The forms include mild, moderate, moderate-to-severe, and severe disease.

The estimated breakdown is shown below:

Mild disease may cause slight anemia or no clear signs. Moderate disease often causes anemia, jaundice, spleen swelling, and gallstones.

The effects of HS vary widely between people. Their severity reflects the type and amount of membrane damage ³.

Anemia may cause tiredness, weakness, pale skin, or a fast heartbeat ^2,7. Some people have symptoms that go unnoticed until adulthood ².

Possible signs and related problems include the following:

Moderate HS often becomes clear during childhood. Mild disease may not be found until adulthood ².

Some people have no symptoms before an aplastic crisis ³. An infection with parvovirus B19 may reveal the disorder ³.

Jaundice is the most common finding in newborns with HS. It causes yellow coloring in the skin or eyes ⁷.

Newborns may also develop pale skin or severe anemia ^1,2. Their anemia often improves after the first year.

The usual group of anemia, jaundice, and spleen swelling is rare in newborns. Spherocytes may also be harder to find at this age.

Other signs of hemolysis may be less clear in newborn tests. A known family history can help guide the assessment.

In HS, red cells break down prematurely ³. Doctors may call this sudden increase a hemolytic crisis ⁸.

Parvovirus B19 can cause an aplastic crisis ³. During this crisis, red cell production drops and anemia can worsen fast ².

A child or adult may first show signs during such a crisis ³. Blood tests can show changes in red cells and their young forms ^2,3.

An aplastic crisis is not the same as long-term aplastic anemia. Learn more in our aplastic anemia guide.

About half of people with HS develop gallstones. These stones often appear from late childhood through middle adulthood.

High bilirubin can form stones inside the gallbladder or bile ducts ⁷. These stones may cause nausea or upper belly pain ⁷.

Severe HS may also affect height, sexual development, or bones. These effects are linked to the severe form of the disorder.

HS starts with gene changes that affect the red cell membrane ⁵. These changes can reduce the cell’s strength and flexibility ⁵.

Several membrane proteins may be affected in HS ^6,8. They include ankyrin, spectrin, band 3, and protein 4.2.

These proteins help support the membrane and maintain cell shape ⁵. A defect makes the membrane less stable.

The cell then loses surface material and becomes a sphere. Its round shape makes movement through narrow spaces harder ⁵.

The spleen removes these cells from the blood too soon ^3,5. Hemolysis can vary in severity, and HS can cause anemia ³.

Five genes are linked to HS ⁸. They are ANK1, SPTA1, SPTB, SLC4A1, and EPB42 ⁸.

Each gene gives instructions for making a red cell membrane protein ^5,8. A variant is a change within a gene.

ANK1 variants cause about half of all HS cases ⁵. Changes in the other genes cause smaller shares of cases ⁵.

A person may inherit a variant from a parent ⁵. A new variant can also occur without a known family history ⁵.

About 75% of HS cases follow a dominant inheritance pattern ^3,5. One changed gene copy can cause disease in this pattern ⁵.

An affected parent can pass the variant to a child. Each biological child has a 50% chance of receiving that variant.

Some cases follow a recessive pattern ⁵. Both gene copies have changes in this pattern ⁵.

Each parent often carries one changed copy in a recessive case ⁵. These carriers do not typically show signs of HS ⁵.

Family history can provide helpful clues. Anemia, jaundice, HS, or spleen removal in relatives may raise concern ³.

Doctors use your health history, an exam, and blood tests. Specialized studies can help confirm unclear cases ².

A clinician may ask when signs first appeared. The review may also cover anemia, jaundice, and past gallstones ^1,3.

Family history is an important part of the assessment ³. Questions may cover relatives with anemia, jaundice, HS, or spleen removal ³.

The exam may check for pale skin, jaundice, and spleen swelling ³. Unexplained newborn jaundice may also lead to testing.

Gallstones without a known cause can support further assessment. These stones may occur with a family history of HS.

Initial spherocytosis blood tests may include several studies ^2,3. Each one provides a different piece of information.

Common early tests may include the following:

Reticulocytosis means there are more young red cells than expected. It can occur when the body replaces cells lost through hemolysis ³.

The usual test pattern includes spherocytes and reticulocytosis ³. It also includes a negative direct antiglobulin test ³.

A Coombs test is also among the lab tests used to diagnose this condition ². A negative result supports HS when the other findings also fit ³.

Some people have a high mean cell hemoglobin concentration. This result is often shortened to MCHC.

A blood smear cannot confirm HS by itself. Spherocytes can occur in other forms of hemolytic anemia.

A blood smear may also report changes in cell size. Our anisocytosis guide explains that test term.

Special tests may help when routine results remain unclear ³. The options depend on the clinical setting and available tests.

Tests used during further assessment may include the following:

The disorder may be inherited from a parent or result from a new mutation ⁵. However, diagnosis still considers symptoms and other test findings.

A hematologist is a doctor who treats blood disorders. This specialist may help when the test results remain uncertain.

HS treatment depends on anemia and the rate of hemolysis ³. Care is supportive for many people ³.

Mild, uncomplicated HS may not require spleen surgery ⁸. Follow-up visits can include checks of red blood cell counts ⁷.

The care plan may include these options:

Folate should be used with guidance from a clinician. The sources do not provide one dose that fits every person.

Severe HS may require frequent blood transfusions. The need for treatment reflects the person’s disease severity ⁷.

Phototherapy uses light to treat jaundice in newborns ⁷. Some newborns with severe anemia may need blood transfusions ⁷.

Some may receive medicine that helps the body make red cells ⁷. This treatment may be used alone or with transfusions ⁷.

There is no clear newborn hemoglobin level for starting a transfusion. Clinicians therefore assess each newborn’s full medical picture.

Splenectomy is surgery that removes all or part of the spleen ⁷. It is a standard option for clinically severe HS ⁸.

Removing the spleen reduces the early destruction of spherocytes ^2,7. It can improve the anemia caused by HS ².

However, surgery does not fix the faulty cell membrane ². The red cells keep their abnormal shape after surgery ².

Mild HS found in adulthood may not require splenectomy ². The choice should balance the expected benefit against infection risk.

Doctors generally delay surgery in young children ^2,3. One source advises waiting until age 5 because of infection risk ².

Another source advises waiting until at least age 6 ³. The care team can choose timing based on the individual case.

The spleen helps the body deal with infections ⁷. Living without it can make infections harder to fight ⁷.

People should receive a pneumococcal vaccine before spleen removal ². Other vaccines may be needed based on health history ².

The care team can explain the needed vaccines before surgery. It can also provide an infection plan for care after surgery.

Follow-up remains important after spleen removal. Regular visits can include blood counts and a review of ongoing care ⁷.

Ask about testing if anemia, jaundice, spleen swelling, or gallstones remain unexplained. These findings can occur with HS.

Also share any family history of anemia, jaundice, or spleen removal ³. A family history of HS is another useful clue ³.

Families with HS should have their children checked for the disorder ². Early testing may help find the condition before later problems occur ².

If signs become worse, contact a healthcare professional ². Also seek medical advice if new signs develop ².

Contact your clinician if signs do not improve with new treatment ². A hematologist may help review blood tests and guide care.

HS makes red blood cells rigid and round ⁵. The spleen removes these cells early, which can cause hemolytic anemia ^3,5.

Care may include follow-up, folate, transfusions, newborn light therapy, or spleen removal ⁷. If related signs appear, discuss them with a clinician.