A new type of inherited serum albumin anomaly.

Open Access
Publisher Website
Google Scholar
Abstract
The familial occurrence is described of an anomaly biochemically characterized by a slight decrease in the charge and solubility of 1/4 of the serum albumin molecules without deviation of the sedimentation constant from the normal. The difference in charge is evident from electrophoretic and chromatographic properties. The anomaly is much more difficult to recognize by paper than by agarose gel electro-phoresis. On starch gel electrophoresis sera with this anomaly show an abnormal band between the post-albumins and fast [alpha]2-globulins, where a small albumin fraction is normally recognized. Both disappear after reduction with mercaptoethanol. Anomalous albumin seems to have a greater tendency to dimerize than normal albumin. Five subjects with the anomaly were among 1,550 patients admitted for orthopedic surgery. One was found among 3,200 control cases screened with agarose gel electrophoresis. A family study indicates that the biochemical anomaly probably is the result of heterozygosity for an abnormal autosomal gene. High incidence of bone and joint complaints and bad hearing were common among the family members with anomalous albumin. The albumin anomaly may be secondary to an inborn metabolic error or it may be caused by an abnormal albumin gene.