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Revista Médica de Risaralda

Print version ISSN 0122-0667

Abstract

MONDRAGON-CARDONA, Alvaro; ALZATE-CARVAJAL, Verónica; VASQUEZ, Francisco  and  ORTIZ-MACHACON, Jahir. Anemia of Diamond Blackfan: an exclusión diagnosis. Revista médica Risaralda [online]. 2017, vol.23, n.1, pp.45-47. ISSN 0122-0667.

The Diamond Blackfan anemia is a rare genetic and clinical disorder. It is characterized by red cell aplasia, which typically occurs during the first year of life, typically during the second to the third month of age. 25% of the patients had severe anemia during their childhood, normo or macrocytosis, reticulocyte and selective decrease in the number of erythroid precursor cells in bone marrow. It is caused by mutations affect genes encoding ribosomal proteins, RPS19 initially was identified, which encodes S19 protein and mutations in other genes encoding ribosomal proteins. We present a case of a four-month-old who debuted with severe anemia in whom the substitution were iron supplements, vitamin B12 and folic acid, showed no improvement and who also were systematically discarded as common causes of anemia. The diagnosis of Diamond Blackfan anemia in our country is a diagnosis of exclusion, given the difficulty of access to genetic confirmation tests. In this article the diagnosis is established and gives management with glucocorticoid with good clinical and paraclinical response

Keywords : Anemia; Diamond-Blackfan; Child; Preeschool.

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