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.
Highlights
More than 1500 variants of hemoglobin have been described and approximately 150 are classified as unstable
We present the case of a 3-year-old female patient with a chronic non-immune hemolytic anemia associated with an electrophoretically silent hemoglobin, secondary to hemoglobin Hammersmith
The molecular abnormality of hemoglobin Hammersmith produces a partial change in the functional properties of the structure [6], which is not detected with routine hemoglobin electrophoresis as it is not reflected by abnormal banding [7]
Summary
More than 1500 variants of hemoglobin have been described and approximately 150 are classified as unstable. We present the case of a 3-year-old female patient with a chronic non-immune hemolytic anemia associated with an electrophoretically silent hemoglobin, secondary to hemoglobin Hammersmith. Having knowledge of this pathology, can lead physicians to suspect its presence in cases of chronic non-immune hemolytic anemia with an apparently normal hemoglobin electrophoresis. Case presentation A 3-year-old Colombian girl is referred for outpatient pediatric hematology consultation with a presumptive diagnosis of iron deficiency anemia She has a history of jaundice that was first noticed at 5 months of age with blood workup positive for macrocytic anemia, reticulocytosis, indirect hyperbilirubinemia and a negative direct Coombs test. González Figueredo et al / GSC Biological and Pharmaceutical Sciences, 2020, 11(01), 185–190
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