Symptoms of this disease
A low number of erythrocytes leads to a reduced oxygen transport: anemia. The symptoms of this are paleness and fatigue. A low number of leucocytes leads to an increased risk of infections. These can be uncommon in nature or can be unusually intense. With a reduced number of platelets, a bleeding tendency may develop, varying from spot bleeding to bruising, nose bleeding or heavy menstruation.
The group of diseases that lead to disturbed blood cell production, without being leukemia, are usually indicated with bone marrow failure. It is also important to know for sure that it is not leukemia.
How do we make the diagnosis?
In addition to blood tests, examination of the blood cell production is particularly informative. Blood is made in the bone marrow, in the bones. Bone marrow can be obtained with a bone marrow puncture usually performed under anesthesia in children. To get a better picture of the coherence of the different stages of blood cell production, a bone biopsy is helpful. This is also taken under anesthesia.
Treatment of bone marrow failure
Bone marrow failure has a long list of possible causes that require specific treatment methods.
Blood transfusions may be necessary if the blood cell or blood platelet counts are too low. If the defenses are too low, antibiotics are often given to prevent dangerous infections.
If there is faulty production by diseased blood-forming stem cells, donor stem cell transplantation is often an option for permanent cure. This is a complicated medical treatment that is carefully weighed: a detailed search for the precise diagnosis and donor choice and pretreatment precedes this. Sometimes other treatment options are preferable. Your doctor can give you more information on these. Sometimes, a consultation with a doctor (clinical geneticist) specialized in hereditary diseases is necessary.