EC Paediatrics

Blackfan-diamond syndrome is a rare congenital anemia characterized by the reduction of erythroid precursors in the bone marrow, severe macrocytic anemia and reticulocytopenia, as well as the presence of congenital anomalies and predisposition to cancer. It has hereditary character in 40 - 45% of cases by autosomal dominant inheritance and the remaining 55 - 60% are sporadic. Diagnosis is made in the first months of life in 90% of cases. It is evaluated by complete blood count, reticulocyte count and bone marrow aspirate. The therapy of the syndrome is initially based on corticosteroid therapy and close follow-up of blood count for periodic blood transfusion, adhering to this some patients require iron quelantes. The cure for the disease comes from bone marrow transplantation from a 100% compatible allogeneic donor. Transplantation is not always achieved quickly, and the patient is then submitted to corticosteroid and blood transfusion cycles and presenting certain corresponding adverse effects, such as drug intolerance, iron hemoconcentration and problems related to growth retardation, the latter as well as being seen in other types of chronic anemias. Thus, the aspects of microscopic diagnosis, histocompatibility test characteristics (HLA-Human Leukocyte Antigen) and bone marrow transplantation and its positive consequences for the history of the disease will be addressed.

Keywords: Blackfan-Diamond; Aplasia; Anaemia; Transfusion; Transplantation; Bone Marrow

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