Case Report Homozygous bisalbuminemia or homozygous mutant albumin? Ketan Kulkarni a , Pamela Rowe b , Cathie Lou Christensen b , Trefor Higgins b, ⁎ a Department of Pediatric Hematology Oncology, University of Alberta, Edmonton, Alberta, Canada b DynaLIFEDx, Edmonton, Alberta, Canada abstract article info Article history: Received 19 July 2011 Received in revised form 29 September 2011 Accepted 14 October 2011 Available online 25 October 2011 Keywords: Bisalbumin Albumin variant Homozygous albumin variant Albumin mutant Introduction: Bisalbuminemia is a genetic condition in which an albumin variant is found in serum in ad- dition to normal albumin. Methods and materials: Serum protein electrophoresis using the Sebia HYDRASYS electrophoresis sys- tem was performed on an 84 year old male. Results: Serum protein electrophoresis showed a single albumin band migrating faster than normal albumin. Conclusion: The presence of a homozygous albumin variant band, albumin Naskapi, is noted. © 2011 The Canadian Society of Clinical Chemists. Published by Elsevier Inc. All rights reserved. Introduction Bisalbunemia, a term implying the presence of two albumin species in the serum of an individual, is a genetic condition arising from a point mutation in the one of the genes coding for albumin resulting in the presence of an albumin variant in addition to the normal albumin. Bisalbunemia, heterozygous albumin variant or mutant variant, is usually asymptomatic and is detected during serum protein electrophoresis. A number of bisalbuminemia variants have been reported in literature [1–3]. However, the presence of a ho- mozygous albumin variant or homozygous mutant albumin (the term preferred by Peters (1) is exceedingly rare and the term homozygous bisalbunemia is inappropriate in these cases since bisalbunemia implies two albumin varieties). Here, we report a case of a fast migrating homo- zygous albumin variant (homozygous mutant albumin) (albumin Naskapi 372 Lys →Glu) in a male patient. Albumin Naskapi is ob- served in First Nations people in western Canada. Methods and materials A blood sample from an 84 year old asymptomatic male pa- tient from the North West Territories, Canada was sent for a rou- tine serum protein electrophoresis study. The Sebia HYDRASYS electrophoresis system (Somagen, Edmonton, Alberta) with the HYDRAGEL β 1 β 2 gel was used as directed by the manufacturer for protein electrophoresis. Amido Black was used as the protein stain. Clinical Biochemistry 45 (2012) 181–182 ⁎ Corresponding author. Fax: + 1 780 452 2845. E-mail address: trefor.higgins@dynalifedx.com (T. Higgins). Fig. 1. Photograph of serum protein electrophoresis of index case (position 5) with heterozy- gous albumin Naskapi (positions 9, 10, 12, 18–25) and albumin Vancouver (positions 6, 7, 8 and 11). Positions 4 and 19 are normal controls. 0009-9120/$ – see front matter © 2011 The Canadian Society of Clinical Chemists. Published by Elsevier Inc. All rights reserved. doi:10.1016/j.clinbiochem.2011.10.005 Contents lists available at SciVerse ScienceDirect Clinical Biochemistry journal homepage: www.elsevier.com/locate/clinbiochem