Revista de Ciencias Médicas de Pinar del Río (Jun 2017)
Blackfan Diamond Anemia
Abstract
Introduction: Diamond-Blackfan anemia is a rare cause of anemia in the newborn and the youngest infant. Objective: to present a 6-month-old infant, diagnosed with Diamond-Blackfan anemia, with low hemoglobin levels since birth. Method: the literature on Diamond-Blackfan anemia at pediatric ages is reviewed and updated. Case report: a 6-month-old girl born from a cesarean section due to fetal distress with good birth weight, presenting a severe anemia in the neonatal period, requiring red blood cell transfusion, remaining in the neonatology service for 27 days, the patient was also assessed by the cardiologist, a congenital myocardiopathy was diagnosed, that is why she is treated and monitored by this specialty. At 35 days, hemoglobin level is repeated with a figure of 50 grams / liter. She was hospitalized in the Pediatric Hospital for a study of the anemia she suffered from, where after physical examination, complementary examinations and a collective discussion with pediatricians, cardiologists, geneticists and hematologists, it was decided to transfuse her with globules under surveillance for her myocardiopathy. Prior to transfusion, a medullogram was performed, confirming the integrity of the lines, including granulopoietic and megakaryopoietic hyperplasia with selective depression of the erythroid system and presence of proerythroblasts as the only form of this, establishing the diagnosis of certainty of Blackfan Diamond anemia. Conclusion: the complete examination of these affected infants is considered important for their phenotypic delineation and clinical diagnosis.
