PathogenesisReduction in the number of haemopoietic pluripotential stem cells-------> fault in the remaining stem cellsORImmune reaction against stem cells.-------> unable to divide and differentiate sufficiently to produce the blood cells.
Clinical Features• Anemia with malaise, pallor and other associated symptoms such as palpitations.• Thrombocytopenia (low platelet counts), leading to increased risk of hemorrhage, bruising and petechiae.
Clinical Features• Leukopenia (low white blood cell count), leading to increased risk of infection.• Reticulocytopenia (low reticulocyte counts).• Occurs at any age.• Male predominance.
Diagnosis• 1- Complete Blood Picture (CBP): which shows pancytopenia and reticulocytes.• 2-Bone marrow aspirate: Markedly hypocellular marrow, due to replacement of hemopoietic marrow by adipose tissue (not fibrosis or neoplastic cells).
THERAPY1-General:• The cause is removed.• Supportive care with blood Transfusion, plts concentrate.• Prevention of infection.
THERAPY2. Specific:A-BONE MARROW TRANSPLANTATION:• Treatment of choice.• from HLA matched donor. Usually siblings.• Long term survival rates: 60-70%.
THERAPYA-IMMUNOSUPPRESSION: by using drugs• Antithymocyte globulin (ATG)• Antilymphocyte glubulin (ALG)• Cyclosporin• Intensive immunosupression : cyclophosphamide• Corticosteroids.
FANCONI ANEMIA• Fanconi’s anemia is inherited as an autosomal recessive.• Associated with skeletal, skin, renal and central nervous system abnormalities.• It usually presents between the ages of 5 and 10 years.• Treatment with androgens and SCT