Congenital Dysfibrinogenemias
Authors: H. R. GRALNICK
Journal: Annals of Internal Medicine (1972)

Editorial Notes1 September 1972Congenital DysfibrinogenemiasH. R. GRALNICK, M.D., J. S. FINLAYSON, PH.D.H. R. GRALNICK, M.D.Search for more papers by this author, J. S. FINLAYSON, PH.D.Search for more papers by this authorAuthor, Article, and Disclosure Informationhttps://doi.org/10.7326/0003-4819-77-3-471 SectionsAboutPDF ToolsAdd to favoritesDownload CitationsTrack CitationsPermissions ShareFacebookTwitterLinkedInRedditEmail ExcerptDespite its molecular heterogeneity (1, 2), a relatively constant set of functional properties has been ascribed to human fibrinogen (3). It is, therefore, of considerable clinical, genetic, and biochemical importance that within the last decade several hereditary functional defects of fibrinogen have been described. These disorders of familial, qualitatively abnormal fibrinogens have been most commonly referred to as congenital dysfibrinogenemias (4).Congenital variants of fibrinogen are usually first noticed during coagulation tests in which plasma fibrinogen is converted to fibrin—that is, thrombin time, Reptilase time, or prothrombin time. The times are generally prolonged; in some cases no clot forms at...References1. MOSESSON M: Molecular heterogeneity of human fibrinogen. Thromb Diath Haemorrh 39 (suppl) :63-73, 1970 Google Scholar2. FINLAYSON J: Chromatographic purification of fibrinogen, in Fibrinogen, edited by LAKI K. New York, Marcel Dekker, 1968, p. 39 Google Scholar3. LAKI K (editor): Fibrinogen. New York, Marcel Dekker, 1968 Google Scholar4. MÉNACHÉ D: Congenitally abnormal fibrinogens. Thromb Diath Haemorrh 39 (suppl) :307-321, 1970 Google Scholar5. JANSSENVREEKEN CJ: Fibrinogen Amsterdam, another hereditary abnormality of fibrinogen. Br J Haematol 20:287-298, 1971 CrossrefMedlineGoogle Scholar6. GRALNICKGIVELBERFINLAYSON HHJ: Congenital dysfibrinogenemia: fibrinogen Bethesda II, in Abstracts, International Society on Thrombosis and Haemostasis. Oslo, Norway, Villco Trykkeri, 1972 Google Scholar7. FORMANRATNOFFBOYER WOM: An inherited qualitative abnormality in plasma fibrinogen: fibrinogen Cleveland. J Lab Clin Med 72:455-472, 1968 MedlineGoogle Scholar8. ZIETZSCOTT BJ: An inherited defect in fibrinogen polymerization: fibrinogen Los Angeles (abstract). Clin Res 18: 179, 1970 Google Scholar9. STREIFFALEXANDREVIGNERON FPC: Un nouveau cas d'anomalie constitutionelle et familiale du fibrinogéne sans diathese hémorragique. Thromb Diath Haemorrh 26:565-576, 1971 MedlineGoogle Scholar10. MÉNACHÉ D: Constitutional and familial abnormal fibrinogen. Thromb Diath Haemorrh 13 (suppl) : 173-185, 1964 Google Scholar11. SAMAMASORIASORIA MJC: Dysfibrinogénémie congénitale et familiale sans tendance hémorragique. 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J Clin Invest 48:235-249, 1969 CrossrefMedlineGoogle Scholar18. VERSTRAETE M: Discussion. Thromb Diath Haemorrh 39 (suppl): 334-337, 1970 Google Scholar19. HAMPTONGARRISON JM: Fibrinogen and fibrin-stabilizing factor. Med Clin N Amer 56:133-143, 1972 CrossrefMedlineGoogle Scholar20. IMPERATODETTORI CA: Ipofibrinogenemia congenita con fibrinoastenia. Helv Paediatr Acta 13:380-399, 1958 MedlineGoogle Scholar21. HASSELBACKMARIONTHOMAS RRJ: Congenital hypofibrinogenemia in five members of a family. Can Med Assoc J 88:19-22, 1963 MedlineGoogle Scholar22. EGEBERG O: Inherited fibrinogen abnormality causing thrombophilia. Thromb Diath Haemorrh 17:176-187, 1967 MedlineGoogle Scholar23. BECKSHAINOFFVOGEL EJA: Functional evaluation of an inherited abnormal fibrinogen: fibrinogen "Baltimore." J Clin Invest 50:1874-1884, 1971 CrossrefMedlineGoogle Scholar24. WINCKELMANNAUGUSTINBANDILLA GRK: Congenital dysfibrinogenemia. Report of a new family (fibrinogen Wiesbaden). Abstracts, International Society on Thrombosis and Haemostasis. Oslo, Norway, Villco Trykkeri, 1971, p. 64 Google Scholar25. BLOMBÄCKBLOMBÄCK BM: Molecular defects and variants of fibrinogen. Nouv Rev Fr Hematol 10:671-678, 1970 MedlineGoogle Scholar26. BLOMBÄCKBLOMBÄCKMAMMEN MBE: Fibrinogen Detroit—a molecular defect in the N-terminal disulphide knot of human fibrinogen? Nature (Lond) 218:134-137, 1968 CrossrefMedlineGoogle Scholar This content is PDF only. To continue reading please click on the PDF icon. Author, Article, and Disclosure InformationAffiliations: Clinical Pathology Department Clinical Center Division of Biologies Standards National Institutes of Health Bethesda, Md. PreviousarticleNextarticle Advertisement FiguresReferencesRelatedDetails Metrics Cited ByOxidative modification of fibrinogen inhibits thrombin-catalyzed clot formationCase Report: Acquired Dysfibrinogenemia Secondary to Mithramycin ToxicityGene ActionFibrinogen New Orleans: Hereditary dysfibrinogenemia with an Aα chain abnormalityAcquired Dysfibrinogenaemia in Acute and Chronic Liver Disease 1 September 1972Volume 77, Issue 3Page: 471-473KeywordsBlood plasmaClinical geneticsFibrinogenProthrombin timeThrombin Issue Published: 1 September 1972 PDF DownloadLoading ...