Journal
HEMOGLOBIN
Volume 40, Issue 2, Pages 130-133Publisher
TAYLOR & FRANCIS LTD
DOI: 10.3109/03630269.2015.1115766
Keywords
Double nucleotide substitution; Hb Allentown; Hb S-South End; low oxygen affinity; low oxygen saturation; unstable Hb; variant Hb
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Hemoglobin (Hb) variants may be associated with low oxygen saturation and exacerbated episodes of anemia from common stressors such as viral infections. These attributes frequently cause increased clinical concern and unnecessary and expensive testing if not considered early in the evaluation of the patient. Some clinically significant Hb variants result in a normal Hb electrophoresis result, which can be method-dependent. Herein we describe a patient with low oxygen saturation and a history of hemolytic anemia who was subsequently found to carry a novel, unstable -globin variant that we have named Hb Allentown [137(H15)ValTrp (GTG>TGG) HBB: c.412_413delinsTG, p.Val138Trp] for the place of identification of the variant. Hb Allentown is formed by a rare double nucleotide substitution within the same codon. Additionally, positive identification of rare Hb variants characterized by a single method is discouraged, as the Hb variant was misclassified as Hb S-South End or 6(A3)GluVal;132(H10)LysAsn (HBB: c.[20A>T;399A>C]) by the initial laboratory.
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