Hemoglobin hammersmith associated with hemolytic anemia in a 3-year-old Colombian girl

Figueredo Oscar Eduardo González; Reina Sara Valentina Medellin; Aislant Maria Camila Guerrero

doi:10.30574/gscbps.2020.11.1.0102

Authors

Figueredo Oscar Eduardo González Pediatric hematologist & oncologist. Fundación Santa Fé de Bogotá. Hospital central de la policía nacional de Colombia. Bogotá DC, Colombia.
Reina Sara Valentina Medellin Universidad de los Andes. Bogotá DC, Colombia.
Aislant Maria Camila Guerrero Universidad de los Andes. Bogotá DC, Colombia.

DOI:

https://doi.org/10.30574/gscbps.2020.11.1.0102

Keywords:

Hemolytic anemia, Unstable hemoglobin, Hemoglobin Hammersmith, DNA analysis.

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.

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