Spherocytosis: Understanding the Causes, Symptoms, and Treatment

In the course of the alleged doping affair of the speed skater Claudia Pechstein, a disease has become the focus of interest that one does not otherwise hear very much about spherical cell anaemia, or spherocytosis, as it is called in medical terminology. How can the disease be explained, what symptoms does it cause, and how do you live with it?

What is spherical cell anaemia?

In Germany, around 33,000 people suffer from this genetic disease, which is classified as haemolytic anaemia. Anaemia, i.e. tularemia, can have various causes. Among other things, an increased breakdown of the red blood cells (erythrocytes), known as haemolysis, can be the reason for this. The erythrocytes typically have a flat-concave shape; in the case of spherical cell anaemia, they are – as the name suggests – spherical. This has to do with an inherited membrane defect in the erythrocyte wall, which causes increased permeability to sodium and water, causing the cells to swell.

Due to this pathologically altered, inflexible form, they are intercepted in the spleen and broken down prematurely. To compensate, more young erythrocytes called reticulocytes enter the bloodstream.

The disease is mainly inherited in an autosomal dominant manner. This means the condition is passed from a sick parent to 50% of the children. Depending on the severity of the symptoms, a distinction is made between 4 degrees of severity. Claudia Pechstein is said to suffer from a mild form of the disease.

 

Spherical Cell Anemia: Symptoms variable

The symptoms depend on the extent of the anaemia, which can be almost entirely compensated for by the formation of new red blood cells. In this case, the discomfort is hardly felt. However, the typical symptoms of anaemia can also appear:

Pale mucous membranes, tiredness, headaches, dizziness, loss of performance, cardiac arrest, and shortness of breath. The spleen is enlarged and almost always palpable. The breakdown of the red blood pigment, converted into yellow bile pigment (bilirubin) in the liver, can lead to jaundice again and again if bilirubin cannot be excreted sufficiently. Striking is the tendency to gallstones, leading to symptoms even in adolescence.

As a result of infections, especially with parvovirus B 19, the causative agent of ringworm, the breakdown of erythrocytes can be so enormously increased that a haemolytic crisis occurs. The symptoms are fever with chills, abdominal and back pain, poor circulation up to collapse, jaundice, passing beer-brown urine and headaches.

Such a hemolytic crisis can be life-threatening, mainly if the bone marrow cannot supply enough young erythrocytes.

Mostly characteristic family history

The diagnosis is based on the family history in connection with the enlargement of the spleen and laboratory tests, through which the increased hemolysis, the spherical shape of the red blood cells and their reduced osmotic resistance can be demonstrated.

 

Spleen removal as a treatment method

The treatment of choice in severe and moderate cases is removal of the spleen. In a mild form, this measure is usually not necessary. The spherical shape of the erythrocytes remains after this measure, but the lifespan of the red blood cells normalizes because they are no longer broken down prematurely by the spleen.

As an essential organ of the immune system, the spleen is not removed from children under six if possible. Before it is removed, it must be vaccinated against pneumococci and Haemophilus influenzae to prevent life-threatening infection. The partial spleen removal is often preferred today since the remaining spleen can still assume a specific defensive function. It is often necessary to remove the gallbladder in childhood or adolescence because of gallstones.