Blackfan Diamond Anemia

Authors

  • Omar Viñas Díaz Hospital Pediátrico Provincial Docente Pepe Portilla. Pinar del Río. Cuba
  • César Valdés Sojo Hospital Pediátrico Provincial Docente Pepe Portilla. Pinar del Río. Cuba
  • Sarah Álvarez Reinoso Hospital Pediátrico Provincial Docente Pepe Portilla. Pinar del Río. Cuba.

Keywords:

ANEMIA, DIAMOND-BLACKFAN, NEMIA, NEONATAL, HYPOPLASTIC, CONGENITAL

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.

 


 

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Author Biographies

Omar Viñas Díaz, Hospital Pediátrico Provincial Docente Pepe Portilla. Pinar del Río. Cuba

Médico. Especialista de Primer Grado en Pediatría. Instructor

César Valdés Sojo, Hospital Pediátrico Provincial Docente Pepe Portilla. Pinar del Río. Cuba

Especialista de primer grado en Hematologia

Sarah Álvarez Reinoso, Hospital Pediátrico Provincial Docente Pepe Portilla. Pinar del Río. Cuba.

Médica. Especialista de Segundo Grado en Pediatría. Máster en Urgencias Médicas en Atención Primaria de Salud. Profesor Auxiliar y Consultante. Investigador Agregado.

References

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https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5010382/

3. Clinton C, Gazda H. Diamond-blackfan anemia [Internet]. Estados Unidos: University of Washington; 2016 [citado 2016 oct 23]. Disponible en:

https://www.ncbi.nlm.nih.gov/books/NBK7047/?report=reader.

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6. Garcia Pacheco H. Anemias en pediatría [Internet]. Argentina: Biblioteca Médica; 2012 [citado 2016 may 12]. Disponible en: http://www.biblioteca-medica.com.ar/2012/11/anemias-en-pediatria.html

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Published

2017-06-30

How to Cite

1.
Viñas Díaz O, Valdés Sojo C, Álvarez Reinoso S. Blackfan Diamond Anemia. Rev Ciencias Médicas [Internet]. 2017 Jun. 30 [cited 2025 Aug. 13];21(4):557-62. Available from: https://revcmpinar.sld.cu/index.php/publicaciones/article/view/3147

Issue

Vol. 21 No. 4 (2017)

Section

CASE REPORTS

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