Hereditary spherocytosis

What happens in this disease?

Red blood cells are normally flat and flexible. In this disease, some proteins in the cell membrane are faulty. The cells become stiff and take on a ball shape. These cells get trapped in the spleen and break down early. The disease has different forms, from mild to severe.

Which symptoms can occur?

Symptoms vary greatly from person to person. In the mild form, there may be no symptoms at all.

• Anemia, paleness and tiredness
• Yellowing of the skin and eyes
• Enlarged spleen
• Gallstones (in about half)
• Anemia in newborns; it often becomes milder after the first year
• A sudden worsening of anemia after a viral infection (sometimes)
• Short stature and bone problems in the severe form (rare)

How is it diagnosed?

During the examination, the doctor checks the size of the spleen. Ball-shaped cells are seen in the blood count and blood smear. Tests showing the breakdown of blood and special cell membrane tests are done. A genetic test is not always needed, but it can clarify the diagnosis.

Treatment and care

In moderate and severe forms, supplements of folate, a B vitamin, are recommended. Blood transfusions may be needed for severe anemia. In severe cases, removing the spleen greatly improves the anemia. In children, this surgery is usually delayed for a few years. Vaccines are given before the surgery. In mild cases, the spleen may not need to be removed. If gallstones cause problems, the gallbladder may be removed. The doctor who follows the disease decides which treatment is suitable.

For the family: inheritance and genetic counselling

About three quarters of cases are passed on through dominant inheritance. An affected parent has a 1 in 2 chance of passing it to each child. Sometimes the gene change appears for the first time in the family. The remaining cases are passed on through recessive inheritance. In this case, for a couple who are both carriers, the chance of having an affected child is 1 in 4 in each pregnancy. If the disease is in the family, checking the children is recommended. Genetic counselling guides the family.