In the course of the alleged doping affair of the speed skater Claudia Pechstein a disease in the center of interest has moved, of which you do not hear much else: the Kugelzellämie or spherocytosis, as it is called in medical terminology. How is the disease explained, what are the symptoms and how do you live with it?
What is a Globular Cell Anemia?
In Germany, around 33, 000 people suffer from this genetic disease, which is considered to be hemolytic anemia. Anemia, ie butarmut, can have various causes. Among other things, an increased reduction of red blood cells (erythrocytes), which is referred to as hemolysis, may be the reason for this. The erythrocytes usually have a flat-concave shape, in spherical cell anemia they are - as the name implies - spherical shaped. This has to do with an inheritable membrane defect of the erythrocyte wall, which causes increased permeability to sodium and water, resulting in swelling of the cells.
Because of this morbidly altered, inflexible form they are intercepted in the spleen and degraded prematurely. In return, more young erythrocytes, called reticulocytes, enter the bloodstream.
The disease is inherited mostly autosomal dominant. 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 be suffering from a mild form of the disease.
Spherical cell anemia: symptoms variable
The symptoms are dependent on the extent of anemia, which can be almost completely compensated by the formation of red blood cells. In this case, the complaints are barely noticeable. However, the typical symptoms of anemia may also appear:
Pale mucous membranes, tiredness, headache, dizziness, loss of performance and also heart-head and shortness of breath. The spleen is enlarged and almost always palpable. By reducing the red blood pigment, which is converted to yellow bile pigment (bilirubin) in the liver, jaundice can occur again and again if bilirubin can not be sufficiently excreted. Striking is the tendency to gallstones, which can lead to discomfort even in adolescence.
As a result of infections, especially with Parovirus B 19, the causative agent of the Ringelröttel, the degradation of the erythrocytes can be increased so much that it comes to a hemolytic crisis. The symptoms are: fever with chills, abdominal and back pain, circulatory insufficiency to collapse, jaundice, excretion of a beer brown urine and headache.
Such a hemolytic crisis can be life-threatening, especially if the bone marrow can not replenish enough young red blood cells.
Mostly characteristic family history
The family history leads to the diagnosis in connection with spleen enlargement and laboratory investigations, by which the increased hemolysis, the spherical shape of the red blood corpuscles and their diminished osmotic resistance can be detected.
Milk removal as a treatment method
The treatment of choice in severe and moderate cases is the removal of the spleen. In a light form, this measure is usually not required. The spherical shape of the erythrocytes remains after this measure, but the lifetime of the red blood cells normalized, since they are no longer prematurely degraded by the spleen.
As an important organ of the immune system, the spleen is preferably not removed in children under 6 years. Before it is removed, it must be vaccinated against pneumococci and Haemophilus influenzae to prevent a life-threatening infection. The partial removal of the spleen is often preferred today, because then the residual spleen can still take on a certain defensive function. Often, even in childhood or adolescence due to gallstones removal of the gallbladder is required.