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Clinical and laboratory characteristics of antithrombin deficiencies: A large cohort study from a single diagnostic center.
Gindele, Réka; Selmeczi, Anna; Oláh, Zsolt; Ilonczai, Péter; Pfliegler, György; Marján, Erzsébet; Nemes, László; Nagy, Ágnes; Losonczy, Hajna; Mitic, Gorana; Kovac, Mirjana; Balogh, Gábor; Komáromi, István; Schlammadinger, Ágota; Rázsó, Katalin; Boda, Zoltán; Muszbek, László; Bereczky, Zsuzsanna.
Afiliación
  • Gindele R; Division of Clinical Laboratory Science, Department of Laboratory Medicine, Faculty of Medicine, University of Debrecen, Debrecen, Hungary.
  • Selmeczi A; Thrombosis and Haemostasis Center, Clinical Center, University of Debrecen, Debrecen, Hungary; National Haemophilia Center and Haemostasis Department, State Health Center, Budapest, Hungary.
  • Oláh Z; Thrombosis and Haemostasis Center, Clinical Center, University of Debrecen, Debrecen, Hungary.
  • Ilonczai P; Thrombosis and Haemostasis Center, Clinical Center, University of Debrecen, Debrecen, Hungary.
  • Pfliegler G; Division of Rare Diseases, Department of Internal Medicine, Clinical Center, University of Debrecen, Debrecen, Hungary.
  • Marján E; Department of Pediatrics, A. Jósa Teaching Hospital, Nyíregyháza, Hungary.
  • Nemes L; National Haemophilia Center and Haemostasis Department, State Health Center, Budapest, Hungary.
  • Nagy Á; Department of Internal Medicine, University of Pécs, Pécs, Hungary.
  • Losonczy H; Department of Internal Medicine, University of Pécs, Pécs, Hungary.
  • Mitic G; Institute of Laboratory Medicine, Clinical Centre of Vojvodina, Faculty of Medicine, University of Novi Sad, Novi Sad, Serbia.
  • Kovac M; Blood Transfusion Institute of Serbia, Belgrade, Serbia.
  • Balogh G; Division of Clinical Laboratory Science, Department of Laboratory Medicine, Faculty of Medicine, University of Debrecen, Debrecen, Hungary.
  • Komáromi I; Division of Clinical Laboratory Science, Department of Laboratory Medicine, Faculty of Medicine, University of Debrecen, Debrecen, Hungary.
  • Schlammadinger Á; Thrombosis and Haemostasis Center, Clinical Center, University of Debrecen, Debrecen, Hungary.
  • Rázsó K; Thrombosis and Haemostasis Center, Clinical Center, University of Debrecen, Debrecen, Hungary.
  • Boda Z; Thrombosis and Haemostasis Center, Clinical Center, University of Debrecen, Debrecen, Hungary.
  • Muszbek L; Division of Clinical Laboratory Science, Department of Laboratory Medicine, Faculty of Medicine, University of Debrecen, Debrecen, Hungary.
  • Bereczky Z; Division of Clinical Laboratory Science, Department of Laboratory Medicine, Faculty of Medicine, University of Debrecen, Debrecen, Hungary. Electronic address: zsbereczky@med.unideb.hu.
Thromb Res ; 160: 119-128, 2017 Dec.
Article en En | MEDLINE | ID: mdl-29153735
INTRODUCTION: Inherited antithrombin (AT) deficiency is a heterogeneous disease. Due to low prevalence, only a few studies are available concerning genotype-phenotype associations. The aim was to describe the clinical, laboratory and genetic characteristics of AT deficiency in a large cohort including children and to add further laboratory data on the different sensitivity of functional AT assays. PATIENTS AND METHODS: Non-related AT deficient patients (n=156) and their family members (total n=246) were recruited. Clinical and laboratory data were collected, the mutation spectrum of SERPINC1 was described. Three different AT functional assays were explored. RESULTS: Thirty-one SERPINC1 mutations including 11 novel ones and high mutation detection rate (98%) were detected. Heparin binding site deficiency (type IIHBS) was the most frequent (75.6%) including AT Budapest3 (ATBp3), AT Padua I and AT Basel (86%, 9% and 4% of type IIHBS, respectively). Clinical and laboratory phenotypes of IIHBS were heterogeneous and dependent on the specific mutation. Arterial thrombosis and pregnancy complications were the most frequent in AT Basel and AT Padua I, respectively. Median age at the time of thrombosis was the lowest in ATBp3 homozygotes. The functional assay with high heparin concentration and pH7.4 as assay conditions had low (44%) sensitivity for ATBp3 and it was insensitive for AT Basel and Padua I. CONCLUSION: Type IIHBS deficiencies behave differently in clinical and laboratory phenotypes from each other and from other AT deficiencies. Heparin concentration and pH seem to be the key factors influencing the sensitivity of AT functional assays to IIHBS.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Trombosis / Deficiencia de Antitrombina III Tipo de estudio: Diagnostic_studies / Etiology_studies / Incidence_studies / Observational_studies / Risk_factors_studies Límite: Adult / Female / Humans / Male / Middle aged Idioma: En Revista: Thromb Res Año: 2017 Tipo del documento: Article País de afiliación: Hungria Pais de publicación: Estados Unidos
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Trombosis / Deficiencia de Antitrombina III Tipo de estudio: Diagnostic_studies / Etiology_studies / Incidence_studies / Observational_studies / Risk_factors_studies Límite: Adult / Female / Humans / Male / Middle aged Idioma: En Revista: Thromb Res Año: 2017 Tipo del documento: Article País de afiliación: Hungria Pais de publicación: Estados Unidos