Literature DB >> 94459

Hereditary alpha 2-macroglobulin deficiency.

D Bergqvist, I M Nilsson.   

Abstract

On screening of a normal material 1 man was found (age 37) who on repeated determinations had a low alpha 2M, namely 25 % with electroimmuno assay according to Laurell. Investigation of the family revealed that the mother (age 69) and one daughter (age 5) had low values too. All other coagulation and fibrinolytic components were normal. They had no signs of increased fibrinolysis and normal levels of alpha 2-antiplasmin, alpha 1-antitrypsin and antithrombin III. Liver function tests were normal. It seems to be an inherited deficiency. The transmission is apparently autosomal dominant and the affected members heterozygotes. The defect has not caused any clinical symptoms. This family appears to be the first reported with an alpha 2M deficiency.

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Year:  1979        PMID: 94459

Source DB:  PubMed          Journal:  Scand J Haematol        ISSN: 0036-553X


  5 in total

1.  Expression of Panza, an alpha2-macroglobulin, in a restricted dorsal domain of the primitive gut in Xenopus laevis.

Authors:  Liliam Pineda-Salgado; Eileen J Craig; Rebecca B Blank; Daniel S Kessler
Journal:  Gene Expr Patterns       Date:  2005-11-07       Impact factor: 1.224

2.  Detection of an alteration of the alpha 2-macroglobulin gene in a patient with chronic lung disease and serum alpha 2-macroglobulin deficiency.

Authors:  W Poller; J Barth; B Voss
Journal:  Hum Genet       Date:  1989-08       Impact factor: 4.132

3.  An association analysis of Alzheimer disease candidate genes detects an ancestral risk haplotype clade in ACE and putative multilocus association between ACE, A2M, and LRRTM3.

Authors:  Todd L Edwards; Margaret Pericak-Vance; Johnny R Gilbert; Jonathan L Haines; Eden R Martin; Marylyn D Ritchie
Journal:  Am J Med Genet B Neuropsychiatr Genet       Date:  2009-07-05       Impact factor: 3.568

4.  Reference distributions for alpha2-macroglobulin: a practical, simple and clinically relevant approach in a large cohort.

Authors:  Robert F Ritchie; Glenn E Palomaki; Louis M Neveux; Olga Navolotskaia; Thomas B Ledue; Wendy Y Craig
Journal:  J Clin Lab Anal       Date:  2004       Impact factor: 2.352

5.  Heritable alpha 2-macroglobulin deficiency in a patient with arterial thrombosis: alpha 2-macroglobulin deficiency Irvine.

Authors:  H E Branson; Y Endo; A R Fagin; M Schlutz
Journal:  J Natl Med Assoc       Date:  1984-11       Impact factor: 1.798

  5 in total

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