Article
Cyanosis, hemolysis, decreased HbA1c and abnormal co-oximetry in a patient with hemoglobin M Saskatoon [HBB:c.190C > T p.His64Tyr].
Hematology (Amsterdam, Netherlands) - 1 Dec 2021
Göttgens Eva-Leonne, Baks Kristian, Harteveld Cornelis L, Goossens Kristel, van Gammeren Adriaan J
Abstract excerpt
We describe a first Dutch case of Hb M Saskatoon (HBB:c.190C > T p.His64Tyr) in a 47-year-old female Dutch patient who presented with cyanosis, hemolysis, and abnormal co-oximetry. A mean corpuscular volume (MCV) of 105 fL caused by reticulocytosis (160 × 109/L) and low red blood cell count (3.6 × 1012/L) suggested an increased erythrocyte turnover. An HPLC glyco-globin analysis revealed a decreased HbA1c...
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