Hereditary spherocytosis : University College London Hospitals NHS Foundation Trust

What is hereditary spherocytosis?

Hereditary spherocytosis (HS) is condition that affects red blood cells. Red blood cells contain haemoglobin which carries oxygen around your body.

Every cell in our body has a surface membrane. This is a layer that controls the movement of substances in and out of the cell. In HS, the surface membrane of red blood cells is not as strong as it should be. When the red blood cells pass through the spleen, bits of the membrane break off. This changes the shape of the red blood cells from donut-shaped discs to spheres. Doctors call these ‘spherocytic red blood cells’.

Spherocytic red blood cells are easily destroyed. They may only last 30 days instead of the normal 120 days. When they break down, the bone marrow can't keep up with making enough new red blood cells. This can lead to anemia.

When the red blood cells breakdown, a chemical called bilirubin builds up in the blood. Higher levels of bilirubin can turn the whites of the eyes and skin yellow. This condition is called jaundice. Over time, high levels of bilirubin can form gallstones in the bile. Bile is the liquid produced by the liver that helps to digest fats.

HS is usually passed from parents to their children. It is more common in people of Northern European descent, is also common in North Africa, Japan and Brazil, and can occur in any ethnic group.

Three out of four people affected by HS have a family history of HS. If a parent has HS, each of their children has a 1 in 2 chance of having it.

One out of four people with HS don’t have a family history of it. This may be because the parents have a very mild condition which has not been diagnosed or it is a new genetic mutation. We can now analyse the DNA of the family members to understand what gene is causing the condition and find out who is affected.

The symptoms of HS differ in severity. Children often have similar symptoms as their affected parents or siblings. HS symptoms can appear at any age and are not always present at birth.

Anaemia

A child with anaemia may feel very tired, irritable, poorly, appear pale, or not grow as well as expected. Older children and adults may get tired when they exercise. The symptoms can range from mild to severe. People with severe symptoms often need regular transfusions.

Sometimes viral infections such as parovirus B19 (also known as slapped cheek syndrome) may stop the production of red blood cells. This can last for up to 10 days and can make the anaemia worse over a few days. If you develop signs of anaemia, it is important that you have a blood test. Ask your GP, hospital doctor or clinical nurse specialist for one. You may need a short period of a blood transfusion. For more information, please see our Parovirus and haemolytic anaemias web page.

Jaundice

Jaundice is yellowing of the skin and the whites of the eyes. Jaundice is reversible and may vary in intensity over time.

Gallstones

Gallstones are small stones that form in the gallbladder. The gallbladder is a small pouch underneath the liver. Gallstones can cause the following symptoms:

Recurrent pain in the abdomen
Inflammation of the gallbladder
Blockage of the bile
Worsening jaundice.

The main treatment is the removal of the gallbladder. Gallstones can also be managed by widening the outlet of the gallbladder.

Large spleen (splenomegaly)

The spleen is an organ that filters the blood, destroys old blood cells and fights infection. It is normally hidden under the ribs on the left-hand side of the chest. If a spleen gets large, it will protrude into the abdomen and make it feel full or swollen.

The spleen has a large blood supply and if damaged it can bleed very heavily. If you have a large spleen, you should not play contact sports. If you injure it, go to an Emergency Department (A&E) to have it examined. You might also need a scan.

Some people who have large spleens or severe anaemia need to have their spleens removed by an operation called a splenectomy.

To diagnose HS, a doctor will ask questions, examine you or your child, and do blood tests.

Regular clinic visits. We will see you or your child in clinic at least once a year.

Folic acid. Taking folic acid helps the bone marrow produce new red blood cells.

Spleen removal (splenectomy). Some people who are severely affected by HS may need to have their spleen removed. We recommend waiting until a child is 5 years old before having this type of surgery. Some surgeons suggest removing only part or almost all of the spleen. This is so that fewer red blood cells are destroyed. For people who have this type of spleen removal, their spleen will still work a bit. This should protect them against certain infections. However, this has not been proven in a clinical trial, so we don’t know how effective it is yet.

Go to your local A&E if you notice:

Sudden tiredness
Poor appetite or feeding
Worsening jaundice or paleness.

A large spleen is more at risk of bleeding if it is knocked. Seek urgent medical advice if you or your child injure your abdomen or have abdominal pain.

If your spleen has been removed, you are at higher risk of infections. If you have an infection, fever or animal bite get prompt medical advice as you may need antibiotics.

If you come to A&E for any of these reasons, let us know by calling the numbers in the contact details section. This is not essential but will help us to streamline your care.

Haematology admin team:

uclh.redcelladminteam@nhs.net

Haematology clinical nurse specialists (CNSs):

uclh.redcell.cnsteam@nhs.net

Haematology advice line (office hours, adults and children):

020 3447 7359

Adult haematology advice line (out of hours):

07852 220 900

Paediatric helpline (out of hours):