Medicines for Hereditary spherocytosis

What it is

Hereditary spherocytosis is an inherited condition affecting the red blood cells. Normally, red blood cells are flexible, disc-shaped cells; in this condition, a problem with the proteins in the red cell membrane makes the cells more sphere-shaped ("spherocytes") and less flexible and more fragile. As a result, the spleen (which filters the blood) breaks these fragile cells down earlier than normal, so red cells do not last as long — a process called haemolysis. This can lead to a shortage of red blood cells (haemolytic anaemia), causing tiredness and paleness; a build-up of a breakdown product (bilirubin) that can cause jaundice (a yellow tinge to the skin and eyes) and a tendency to form gallstones; and an enlarged spleen. The severity varies widely — from very mild (some people have few or no symptoms and may be diagnosed incidentally or during family testing) to more significant. It usually runs in families and is often diagnosed in childhood, though milder cases may be found later. It is a lifelong condition, but usually manageable.

How it is treated

Hereditary spherocytosis is managed by a haematologist, with care tailored to the severity. Diagnosis is made with blood tests (which show the fragile, sphere-shaped cells and signs of red cell breakdown) and a family history. Many people with mild disease need little treatment beyond monitoring, and general supportive measures. A common supportive measure is taking folic acid, which supports the increased red cell production. Because gallstones are more likely (from the increased breakdown of red cells), these are watched for and treated if they cause problems. Some people, particularly children, can have episodes where the anaemia temporarily worsens (for example during certain infections), which may occasionally need a blood transfusion. For people with more severe disease and significant symptoms, removing the spleen (splenectomy) can greatly reduce the red cell breakdown and improve the anaemia, since it is the spleen that destroys the fragile cells — though this is a significant decision, is usually delayed in children, and requires precautions (such as vaccinations and sometimes preventive antibiotics) because the spleen has a role in fighting infection. Genetic counselling and family testing may be offered. The reassuring message is that hereditary spherocytosis is usually manageable, is often mild, and effective treatments — from supportive measures to, in more severe cases, spleen removal — are available.