Diamond-Blackfan Anemia Report

Diamond-Blackfan anemia is a haematological disorder that affects the bone marrow, the site of production of blood cells. This rare form of congenital anemia prevents the proper maturation and production of red blood cells, resulting in a severe decrease in hemoglobin, the protein responsible for transporting oxygen to tissues. DBA occurs from birth or in the first months of life and is associated with congenital malformations and an increased risk of developing neoplasms, in particular myelodysplastic syndromes, acute myeloid leukemia and osteosarcoma.Congenital malformations, which affect approximately half of DBA sufferers, include microcephaly, altered facial features, cardiac and renal abnormalities and hypospadias in males. Developmental delay may also appear.Although this disease predominantly affects the red cell line, platelets and white blood cells may also occur in lower than normal concentrations.DBA is caused by mutations in ribosomal proteins in about 80/85% of cases, gi