α1-Antitrypsin Pittsburgh in a family with bleeding tendency

Haematologica

Volumn 94, Issue 6, 2009, Pages 881-884

  Hua, Baolai ^a   Fan, Liankai ^a   Liang, Yan ^b   Zhao, Yongqiang ^a,d   Tuddenham, Edward G D ^c  

^a PEKING UNION MEDICAL COLLEGE HOSPITAL   (China)

^b CAPITAL MEDICAL UNIVERSITY   (China)

^c ROYAL FREE HOSPITAL   (United Kingdom)

^d NONE   (China)

Author keywords

1 antitrypsin Pittsburgh; Bleeding; Inheritance; Mutation

Indexed keywords

ALPHA 1 ANTITRYPSIN; BLOOD CLOTTING FACTOR 10; BLOOD CLOTTING FACTOR 11; BLOOD CLOTTING FACTOR 12; PROTEIN C; THROMBIN; ALPHA 1 ANTITRYPSIN PITTSBURGH; ALPHA 1-ANTITRYPSIN PITTSBURGH;

ADOLESCENT; ADULT; ARTICLE; BLEEDING TENDENCY; CASE REPORT; CLINICAL FEATURE; DNA SEQUENCE; FEMALE; GENE SEGREGATION; HUMAN; LABORATORY TEST; MALE; THROMBOCYTE AGGREGATION; ULTRASOUND; BLEEDING DISORDER; BLOOD; BLOOD CLOTTING TEST; FAMILY HEALTH; GENETICS; HETEROZYGOTE; METABOLISM; MUTATION; NUCLEOTIDE SEQUENCE; PEDIGREE; PROTEIN ELECTROPHORESIS;

ADOLESCENT; ADULT; ALPHA 1-ANTITRYPSIN; BLOOD COAGULATION TESTS; BLOOD PROTEIN ELECTROPHORESIS; DNA MUTATIONAL ANALYSIS; FACTOR X; FACTOR XI; FACTOR XII; FAMILY HEALTH; FEMALE; HEMORRHAGIC DISORDERS; HETEROZYGOTE; HUMANS; MALE; MUTATION; PEDIGREE;

EID: 66749107372     PISSN: 03906078     EISSN: 15928721     Source Type: Journal    
DOI: 10.3324/haematol.2008.004739     Document Type: Article

References (11)

1. 1-antitrypsin variant causing hemorrhagic disease. Blood 1978;51:129-137
2. 1-antitrypsin Pittsburgh (358 Met leads to Arg), a fatal bleeding disorder. N Engl J Med 1983;309:694-698
3. 1-antitrypsin associated with protein C deficiency in a patient with mild bleeding tendency. J Clin Invest 1992;89:1537-1543
4. 1-antitrypsin and the gene for the S variant. Biochemistry 1984;23:4828-4837
5. Filion ML, Bhakta V, Nguyen LH, Liaw PS, Sheffield WP. Full or partial substitution of the reactive center loop of α1-proteinase inhibitor by that of heparin cofactor II: P1 Arg is required for maximal thrombin inhibition. Biochemistry 2004;43:14864-14872 (Pubitemid 39524961)
6. 1-antitrypsin. J Biol Chem 1988;263:11613-11616
7. 1-antitrypsin variants with substitution of arginine or leucine for methionine 358. J Biol Chem 1990;265:2365-2369
8. 1-antitrypsin (Pittsburgh mutation): role in the maintenance of hemostatic balance. J Lab Clin Med 1995;125:531-539
9. Brennan SO, Peach RJ. Calcium-dependent KEX2-like protease found in hepatic secretory vesicles converts proalbumin to albumin. FEBS Lett 1988;229:167-170
10. 1-protease inhibitor variant (Met352 Arg) in transfected cells. Biochem Biophys Res Commun 1990;171:236-242
11. 1-antitrypsin-Pittsburgh. A potent inhibitor of human plasma factor XIa, kallikrein, and factor XIIf. J Clin Invest 1986;77:631-634