ENDO, Y., IWAMOTO, K., MAMIYA, S., NIITSU, H., ITOH, T. and MIURA, A.B.
A New Bleeding Tendency Due to Hereditary Hyper α2-Macroglobulinemia. Tohoku J. exp. Med., 1988,
154 (4), 365-373-A heritable elevation in α
2-macroglobulin (α
2M) was identified in a 9-year-old girl with a severe bleeding tendency and activated partial thromboplastin time (APTT) prolonged to 49.1sec (normal 27-38) as well as recalcification time prolonged to 438sec (<180). The addition of her plasma to normal plasma made APTT prolong from 26.8 to 38.3sec. The plasma α
2M levels in her relatives were checked, i.e., proband, her sister, mother, maternal grandmother, father, and paternal grandmother: Their levels were 406, 380, 352, 339, 166 and 236mg/100ml (140-285), respectively. Thus the patient's condition was thought to be an autosomal dominant disease, though her other relatives displayed no apparent clinical symptoms. Of significance was that a possible causal association between her elevated α
2M and her prolonged APTT was indicated. The activity of the α
2M, determined as trypsin-protein esterase, was 351mg/100ml (197% ). The α
2M also demonstrated normal horizontal mobility to anti-α
2M plasma with a high precipitin arc (showing the difference of the protein concentration) by crossed immunoelectrophoresis, and a normal horizontal mobility of immunofixation electrophoresis. In addition, after analysis of testing done by SDS-polyacrylamidegelelectrophoresis, we found no qualitative abnormality in the α
2M of the patient.
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