Hereditary or congenital spherocytosis is an inherited condition where the red blood cells are spherical instead of the usual disk shape. It can lead to jaundice, hemolytic anemia, and an enlarged spleen. Treatment can help a person live a full quality of life.
Hemolytic anemia means that red blood cells die faster than the body can replace them.
A person’s life expectancy with hereditary spherocytosis is usually typical. However, people born with this condition may need ongoing medical monitoring and sometimes surgery to treat gallstones or an enlarged spleen.
Some may also need blood transfusions if their red blood cell count drops too low.
Several different genetic mutations cause hereditary spherocytosis. It is relatively common and
Read on to learn more about hereditary spherocytosis, including its symptoms and how doctors diagnose and treat it.
People with hereditary spherocytosis have
Additionally, their red blood cells live a shorter time in comparison. This can cause anemia, which means that a person does not have enough red blood cells. Anemia affects the body’s ability to carry oxygen, potentially affecting many areas of functioning.
Red blood cells typically live about 120 days before the spleen destroys them. However, people with spherocytosis have red blood cells that die more quickly. A major factor determining the severity of the disease is how quickly the spleen destroys red blood cells. Faster destruction increases the risk of anemia, intensifying the effects of the disease.
Spherocytosis is present at birth, but many children do not show symptoms for years, and some may have few or no symptoms at all.
In North America, about 1 in 2,000 people have hereditary spherocytosis.
The condition is present at birth, but most people do not develop symptoms or receive a diagnosis until early childhood.
Although it is more common in North America and Europe, it can also affect many different populations. A person may go without a diagnosis if they do not experience symptoms.
Signs and symptoms of spherocytosis vary from person to person, and some may not experience any symptoms.
When symptoms are present, they may include:
- enlarged spleen
- gallstones, which can cause intense abdominal pain
- anemia, which may affect energy levels
- muscle pain and weakness
- hemolysis, which is the destruction of red blood cells
- jaundice, which causes yellow skin or eyes, or dark urine
According to the symptoms and complications a person experiences, a doctor classifies the disease into the following categories:
- moderate to severe
Hereditary spherocytosis is a congenital genetic condition. This means that it is present at birth and that mutations in genes cause it. There is no evidence that anything that happens after birth can result in this condition.
Protein deficiency happens because of genetic changes in at least one of five different genes. Those genes include:
Biological parents can pass this mutation on to their children.
In most cases, an autosomal dominant pattern passes on the gene. This means that a child only needs one gene to develop the condition. However, in some cases, a child may have to inherit the gene that carries the mutation from both biological parents.
A doctor may suspect spherocytosis according to a person’s symptoms, especially if they develop jaundice in infancy or have unexplained anemia or gallstones.
Blood testing can calculate the total number of red blood cells and reticulocytes, which are immature red blood cells. Both can help diagnose anemia.
The eosin-5’-maleimide test looks for proteins characteristic of hereditary spherocytosis in a sample of red blood cells and can conclusively diagnose the condition.
A doctor may also recommend genetic testing or screenings to rule out other diagnoses.
In most people, splenectomy — or removal of the spleen — can cure symptoms. However, this procedure can increase the risk of serious infections and pose other surgery-related risks. So doctors usually only recommend splenectomy in severe cases or to people with a very large spleen.
Other treatments focus on managing and reducing symptoms.
- blood transfusions to increase red blood cells and hemoglobin
- folate supplements, or vitamin B9, which can help with blood cell formation
- treatment for other conditions, for example, removing the gallbladder if a person develops gallstones
People with hereditary spherocytosis typically have a positive outlook, and no recent research shows they have a shortened life expectancy. Additionally, having access to quality medical care for common complications, such as gallstones, is important.
However, some potential complications may affect the quality of life or life expectancy. For example, a 2018 study followed 65 children with this condition. They found the following conditions:
- splenomegaly (an enlarged spleen) in 73.8%
- cholelithiasis (gallstone development) in 30.8%
- aplastic crisis (shutdown of red blood cell production) in 13.8%
Some people develop severe symptoms from spherocytosis. One of the most common is anemia, which may be mild to severe.
- cholelithiasis, or gallstones
- an enlarged liver
- blood that clots easily, raising the risk of harmful blood clots
- enlarged spleen
- stomach pain
- sudden destruction of red blood cells, which doctors call hemolytic crisis
- movement problems and issues with the development of motor skills
- skin rash
- muscle weakness
Less common complications include:
- restrictive cardiomyopathy, a type of heart disease
- swelling of the abdomen
- growth delays
- skin ulcers
Children with this condition do not universally need any specific care, aside from ongoing advice from a doctor. Most will need to work with a hematologist, who is a doctor specializing in blood disorders.
Caregivers may also benefit from educational supplements that aim to inform them of their child’s condition and how to manage crises. For example, these measures can include using infection prevention strategies, such as handwashing and mask-wearing, and avoiding exposure to certain
Doctors may recommend folate supplements to promote healthy red blood cells.
People with hereditary spherocytosis who develop COVID-19 may be more likely to develop hemolytic anemia. This can be severe and cause serious complications.
Hemolysis can cause a number of symptoms, and people with COVID-19 who develop it may be at risk for more serious COVID-19 complications.
Spherocytosis is not usually life threatening or life-limiting, and people with the condition can lead healthy lives. However, they may need ongoing medical monitoring and are more likely to need surgery to remove the spleen or gallbladder.
Spherocytosis increases the risk of certain serious symptoms, most notably hemolytic anemia. It is important to seek treatment for any new symptoms and consult with a doctor about strategies to reduce the risk of serious complications.