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Hemoglobin Willamette (β51Pro → Arg): Case Report and Literature Review

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...

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Detalles Bibliográficos
Autores principales: Barbosa, Orivaldo Alves, de Sousa Dias, Matheus Martins, Távora, Saymon Medeiros, de Galiza Neto, Gentil Claudino, de Souza, Jacqueline Holanda, da Silva, Herivaldo Ferreira
Formato: Online Artículo Texto
Lenguaje:English
Publicado: PAGEPress Publications, Pavia, Italy 2017
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5337825/
https://www.ncbi.nlm.nih.gov/pubmed/28286631
http://dx.doi.org/10.4081/hr.2017.6953
Descripción
Sumario: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.