An Unusual Presentation of Erythrocytosis Resulting in the Identification of a Novel Unstable Hemoglobin Variant: Hb Koskullskulle HBB: C.311T > C (p.Phe104Ser).

Abstract excerpt

Elevated hemoglobin (Hb) concentration, erythrocytosis, is a common phenomenon that can be caused by primary or secondary underlying conditions. In this report, we describe a previously unknown mutation in the β globin gene resulting in high Hb concentrations combined with elevated reticulocytes in two family members spanning two generations. In the index patient the variant was first noted during HbA1c...

Topics

• Humans
• Amino Acid Substitution
• beta-Globins
• Hemoglobins, Abnormal
• Mutation
• Pedigree
• Polycythemia