Blood tests with analysis of CBC (number of red blood cells, platelets, number and types of white blood cells), and morphological evaluation of PB smears, with particular attention to the shape of red blood cells and the presence of immature myeloid cells
BM aspirate and BM biopsy, with morphological examination of BM smear along with BM histological examination
Additional biologic investigations on BM cells are now mandatory, including cytogenetic analysis to look for certain changes in the chromosomes and molecular studies, with particular attention to identify possible mutations of the JAK-2 gene
Leukopenia (decrease in the number of white blood cells) - Anemia (decrease of hemoglobin and red blood cells) - Thrombocytopenia (decrease in the number of platelets): these are abnormalities that can be observed at routine laboratory controls and may be ascribed to a variety of underlying diseases. In some instances, these abnormalities of CBC can be due to an impaired BM function and appropriate diagnostic investigations should be planned, following hematologic consultation
In distinct conditions, BM cellularity is markedly reduced, in other words BM is hypoplastic, with a variably low residual hematopoiesis. In the absence of any known reasons of marrow hypoplasia, the diagnosis can be of Aplastic anemia. BM function impairment causes a variable reduction of CBC, i.e. the so called “pan-cytopenia”. When CBC values are profoundly depressed, the diagnosis is of Severe Aplastic Anemia (SAA). Careful BM examination is mandatory whenever a condition of Aplastic Anemia is suspected. Once the diagnosis is confirmed, appropriate treatments should be promptly instituted. At present, there are two main treatment options for SAA. Since SAA is often an immunological-driven disease, intensive immunosuppression can be delivered, along with BM stimulation by hematopoietic cytokines. The alternative approach is to replace the impaired BM with normal hematopoietic stem cells donated by a volunteer donor, that is the alloSCT procedure.