Literature DB >> 17286775

Different clinical phenotype in triplets with haemophilia A.

C Barnes1, V Blanchette, D Lillicrap, K Mann, A M Stain, J Leggo, P Hilliard, M Carcao.   

Abstract

Although many patients with haemophilia may have exactly the same residual clotting factor level, the clinical disease phenotype may vary greatly. This variation may be related to different genetic mutations responsible for haemophilia, environmental influences and co-inheritance of polymorphisms affecting the coagulation system. The study of siblings with haemophilia offers the opportunity to examine additional factors, other than genetic mutation and environment that may impact on the clinical phenotype of haemophilia. We present the unusual case of haemophilia occurring in fraternal triplets. Each of the triplets had a slightly different pattern of bleeding and response to treatment.

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Year:  2007        PMID: 17286775     DOI: 10.1111/j.1365-2516.2006.01396.x

Source DB:  PubMed          Journal:  Haemophilia        ISSN: 1351-8216            Impact factor:   4.287


  3 in total

1.  Phenotypic correction of hemophilia A in sheep by postnatal intraperitoneal transplantation of FVIII-expressing MSC.

Authors:  Christopher D Porada; Chad Sanada; Chung-Jung Kuo; Evan Colletti; Walter Mandeville; John Hasenau; Esmail D Zanjani; Robert Moot; Christopher Doering; H Trent Spencer; Graça Almeida-Porada
Journal:  Exp Hematol       Date:  2011-09-08       Impact factor: 3.084

Review 2.  Novel therapies and current clinical progress in hemophilia A.

Authors:  Pauline Balkaransingh; Guy Young
Journal:  Ther Adv Hematol       Date:  2017-12-28

3.  Microfluidic hemophilia models using blood from healthy donors.

Authors:  Xinren Yu; Karen A Panckeri; Lacramioara Ivanciu; Rodney M Camire; Carmen H Coxon; Adam Cuker; Scott L Diamond
Journal:  Res Pract Thromb Haemost       Date:  2019-12-02
  3 in total

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