In the course of the alleged doping affair of speed skater Claudia Pechstein, a disease has moved into the center of interest that one does not usually hear much about: spherocytic cell anemia or spherocytosis, as it is called in medical terminology. How is the disease to be explained, what complaints does it cause and how does one live with it?
What is spherocytic anemia?
In Germany, about 33,000 people suffer from this genetic disease, which is classified as a hemolytic anemia. Anemia, or butarism, can have various causes. Among other things, an increased breakdown of the red blood cells (erythrocytes), which is called hemolysis, can be the reason. The erythrocytes normally have a flat-concave shape, but in spherical cell anemia they are – as the name suggests – spherical in shape. This has to do with a hereditary membrane defect in the erythrocyte wall that causes increased permeability to sodium and water, leading to swelling of the cells.
Due to this pathologically altered, inflexible form, they are trapped in the spleen and broken down prematurely. To compensate, more young erythrocytes, called reticulocytes, enter the bloodstream.
The disease is mostly inherited in an autosomal dominant manner. This means that the disease is passed on from one 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.
Globular cell anemia: symptoms variable
Symptoms depend on the extent of the anemia, which may be almost completely compensated by the formation of new red blood cells. In this case, symptoms are barely noticeable. However, the typical symptoms of anemia may appear:
Pale mucous membranes, fatigue, headache, dizziness, loss of performance and also heart palpitations and shortness of breath. The spleen is enlarged and almost always palpable. Due to the breakdown of the red blood pigment, which is converted to yellow bile pigment (bilirubin) in the liver, jaundice can always occur if bilirubin cannot be sufficiently excreted. A conspicuous feature is the tendency to gallstones, which can lead to symptoms even in adolescence.
As a result of infections, especially with parovirus B 19, the causative agent of ringworm, the degradation of erythrocytes can be increased so enormously that a hemolytic crisis occurs. The symptoms of this are: Fever with chills, abdominal and back pain, circulatory weakness up to collapse, jaundice, excretion of a beer-brown urine and headache.
Such a hemolytic crisis can become life-threatening, especially if not enough young erythrocytes can be replenished from the bone marrow.
Mostly characteristic family history
Diagnosis is led by family history in conjunction with splenomegaly and laboratory chemistry studies that demonstrate increased hemolysis, spherical shape of red blood cells, and their decreased osmotic resistance.
Splenectomy as a treatment method
The treatment of choice in severe and moderate cases is removal of the spleen. In 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 prematurely broken down by the spleen.
As an important organ of immune defense, the spleen is not removed in children under 6 years of age if possible. Before it is removed, pneumococcal and Haemophilus influenzae vaccinations must be given to prevent life-threatening infection. Partial removal of the spleen is often preferred today, since the residual spleen can then still take over a certain defense function. Removal of the gallbladder is also often necessary in childhood or adolescence because of gallstones.
