El hematólogo y oncólogo Óscar Gonzáles junto a Sara Medellín y María Guerrero estudiantes de la Facultad de Medicina publicaron el siguiente artículo titulado "Hemoglobin hammersmith associated with hemolytic anemia in a 3-year-old colombian girl."
Abstract
Hemoglobin Hammersmith is a rare unstable variant of hemoglobin with decreased oxygen affinity. We report the case of a 3-year-old Colombian girl that initially consulted due to a presumptive diagnosis of iron deficiency anemia. During the evaluation we noticed typical features of chronic hemolytic anemia such as hepatosplenomegaly, jaundice and indirect hyperbilirubinemia; with the presence of target cells and intraerythrocytic inclusions with appearance of tactoids in the peripheral blood smear. The diagnosis of hemoglobin Hammersmith was confirmed through DNA sequencing revealing a pathogenic heterozygous variant in the beta globin chain gene due to a de novo mutation.
Autores:
Óscar Eduardo González Figueredo
- Hematólogo y Oncólogo pediátrico
- Fundación Santa Fé de Bogotá
- Hospital Central de la Policía Nacional de Colombia
Sara Valentina Medellín Reina y María Camila Guerrero
- Facultad de Medicina
- Universidad de los Andes
