Haemoglobinopathia Ypsilanti – A rare, but important differential diagnosis to polycythaemia vera

Abstract

We present a case of a mother and daughter who were initially diagnosed with polycythaemia vera and treated with venesectio. As JAK2 V6217F/exon 12 mutation analyses became available, these were performed and turned out negative. Haemoglobin electrophoresis was performed and the patients were found to have high oxygen affinity haemoglobin Ypsilanti. It is important and relevant to look for high oxygen affinity variants of haemoglobin when there is a family history of erythrocytosis, in young persons and when there is no apparent reason or clonal marker present.

Glucose phosphate isomerase deficiency demasked by whole-genome sequencing: a case report

“…Various tests, including direct anti-globulin test, osmotic gradient ektacytometry [ 7 , 8 ], PKLR sequencing, blood smear, and hemoglobin electrophoresis [ 9 ], ruled out other diagnoses such as hereditary spherocytosis, pyruvate kinase deficiency, autoimmune hemolytic diseases, glucose-6-phosphate dehydrogenase deficiency, thalassemia, and sickle-cell disease. Peripheral blood smear was unremarkable aside from mild stomatocytosis (Fig.…”