Symptoms of this disease
Children with SAA often look pale, have bruises and are tired. Sometimes there is a serious infection. A shortage of red blood cells leads to anemia, the child is pale and gets tired quickly. Due to insufficient blood platelets, small bleeding spots in the skin, bruises or bleeding elsewhere such as gums or nosebleeds can occur. A shortage of white blood cells can cause serious infections.
How do we make the diagnosis?
The reduced blood cell numbers are determined by means of blood tests. Then we examine the bone marrow, the place where the production of blood cells takes place. This examination determines whether there is a problem with production or of another disease such as leukemia. Poor blood cell production can be an expression of an underlying, often hereditary, disease in which other problems can also occur. To assess this, additional, partially genetic examination of bone marrow and blood is needed. A bone biopsy is often also taken.
If an underlying disease and leukemia are excluded, the diagnosis of SAA can be made. In case of doubt between the diagnosis SAA and myelodysplasia, a bone biopsy provides clarity.
Treatment of SAA
The acute symptoms are treated with a transfusion of red blood cells and platelets. In principle, the disease is treated by a stem cell transplant with which the sick blood cell production is replaced by blood-forming cells from a healthy donor. If there is no suitable donor for transplantation, immunosuppressive therapy (IST) is given. This is a treatment consisting of a combination of drugs that suppress the patient's immune system, whereby it is assumed that the immune system is also the cause of the reduced blood cell production. If the IST has an insufficient effect, stem cell transplantation still has to be done, even if only a less well-fitting donor is available.
Children with SAA are treated in the Hematology-oncology department.