Hemoglobin Willamette (b51 Pro → Arg): Case Report and Literature Review

Abstract

We report a case of hemoglobin (Hb) Willamette (β51 Pro → Arg) in the Hematology Department of a tertiary hospital in Fortaleza, Northeast of Brazil. A literature review of the cases described in health sciences databases using as a descriptor Hb Willamette was performed, revealing 12 reported cases, of which only one presented with anemia. Herein, we describe a case of a female 29 years old, with hemoglobinopathy Willamette presenting clinically with anemia, having the lowest hemoglobin rate of the published cases. The relatives of the patient were evaluated andthe patient’s mother corresponded to the first description of the association between Hb Willamette and HbC. Among the hemoglobinopathies, hemoglobin Willamette is an extremely rare disease; therefore it is important to analyze its clinical and laboratory manifestations for accurate diagnosis and assessment of potential interactions with other genetic variants.

A Rare Hemoglobin Variant (β51Pro → His) Causing Misleading Measurements of Hemoglobin A1c

“…Of note, a different variant at the same site, where an arginine replaces the proline, has been described as Hemoglobin Willamette [ 8 ]. Although most patients described with the Hemoglobin Willamette variant are asymptomatic, Barbosa et al report [ 11 ] on a patient who presented with a symptomatic refractory microcytic anemia. Their patient’s laboratory tests showed a hemoglobin of 84 g/L, hematocrit of 23.4%, mean corpuscular volume of 75.0 fL, reticulocytes count of 4.8%, normal iron studies, and a peripheral smear featuring anisochromia, microcytosis, and polychromasia.…”