Hemoglobin hammersmith associated with hemolytic anemia in a 3-year-old Colombian girl
1 Pediatric hematologist & oncologist. Fundación Santa Fé de Bogotá. Hospital central de la policía nacional de Colombia. Bogotá DC, Colombia.
2 Universidad de los Andes. Bogotá DC, Colombia.
Case Study
GSC Biological and Pharmaceutical Sciences, 2020, 11(01), 185-190.
Article DOI: 10.30574/gscbps.2020.11.1.0102
Publication history:
Received on 13 April 2020; revised on 21 April 2020; accepted on 23 April 2020
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.
Keywords:
Hemolytic anemia; Unstable hemoglobin; Hemoglobin Hammersmith; DNA analysis.
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Copyright © 2020 Author(s) retain the copyright of this article. This article is published under the terms of the Creative Commons Attribution Liscense 4.0
