Hemoglobin Willamette (b51 Pro → Arg): case report and literature review

[摘要] 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.

[学科分类] 血液学

[关键词] hemoglobins