Albumin locust valley: a new case of analbuminemia.
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.
Peters
Theodore
T
Research Institute, The Mary Imogene Bassett Hospital, Bassett Healthcare, Atwell Road, Cooperstown, NY 13326, USA. tedp@stny.rr.com <tedp@stny.rr.com>
Holowachuk
Eugene W
EW
McIncrow
Richard
R
Campagnoli
Monica
M
Galliano
Monica
M
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
D012709:Serum Albumin; D004247:DNA