title: Albumin locust valley: a new case of analbuminemia.
abstract: OBJECTIVE
  To discover and document cases of the rare disease analbuminemia.
  
  
  METHODS
  Blood specimens of a subject were analyzed by routine clinical laboratory procedures, by immunochemical tests for albumin, and by electrophoresis with immunofixation using anti-human serum albumin (HSA). Single-strand conformational polymorphism (SSCP), heteroduplex analysis (HA), and DNA sequencing of the 14 exons of the HSA gene were conducted on DNA from leukocytes.
  
  
  RESULTS
  Albumin concentration was 0.003 g/L; serum globulins and cholesterol were elevated. Immunoelectrophoresis showed no trace of albumin in any of the serum components. The coding region plus all mRNA splice sites were normal and mutation-free, and SSCP and HA showed no abnormalities.
  
  
  CONCLUSIONS
  Data define a bona fide case of analbuminemia. We suggest that the mutation causing the analbuminemic trait in this subject might involve a remote regulatory element.
authors.affiliation: Research Institute, The Mary Imogene Bassett Hospital, Bassett Healthcare, Atwell Road, Cooperstown, NY 13326, USA. tedp@stny.rr.com <tedp@stny.rr.com>
authors.forename: Theodore
authors.initials: T
authors.lastname: Peters
authors.forename: Eugene W
authors.initials: EW
authors.lastname: Holowachuk
authors.forename: Richard
authors.initials: R
authors.lastname: McIncrow
authors.forename: Monica
authors.initials: M
authors.lastname: Campagnoli
authors.forename: Monica
authors.initials: M
authors.lastname: Galliano
mesh_terms: D000328:Adult; D001796:Blood Protein Disorders / Q000208:ethnology / Q000235:genetics*; D004247:DNA / Q000032:analysis*; D020022:Genetic Predisposition to Disease; D020180:Heteroduplex Analysis; D006801:Humans; D007558:Italy; D018807:Polymorphism, Single-Stranded Conformational; D035583:Rare Diseases; D012709:Serum Albumin / Q000032:analysis* / Q000172:deficiency* / Q000235:genetics
chemical_list: D012709:Serum Albumin; D004247:DNA