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Hereditary elliptocytosis: Variable clinical severity caused by 3 variants in the α-spectrin gene

  • Published:2018-05-05 Issue:4 Volume:40 Page:e66-e70
  • ISSN:1751-5521
  • Container-title:International Journal of Laboratory Hematology
  • language:en
  • Short-container-title:Int J Lab Hem

Author:

Franck P.1ORCID,Postma C.1,Spaans A.1,Veuger M.1,de Kort G.1,Hudig C.1,Wijermans P.2,Kuypers F.3

Affiliation:

1. Laboratory of Clinical Chemistry and Haematology; LabWest/Haga Teaching Hospital; The Hague The Netherlands

2. Department of Haematology; Haga Teaching Hospital; The Hague The Netherlands

3. Children's Hospital Oakland Research Institute; Oakland CA USA

Publisher

Wiley

Subject

Biochemistry, medical,Clinical Biochemistry,Hematology,General Medicine

Reference12 articles.

1. Hereditary Elliptocytosis: spectrin and Protein 4.1R;Gallagher;Semin Hematol,2004

2. ICSH guidelines for the laboratory diagnosis of nonimmune hereditary red cell membrane disorders;King;Int Jnl Lab Hem,2015

3. Diagnostic tool for red blood cell membrane disorders: assessment of a new generation ektacytometer;Costa;Blood Cells Mol Dis,2016

4. Mutations involving the spectrin heterodimer contact site: clinical expression and alterations in specific function;Delaunay;Semin Hematol,1993

5. Molecular basis of spectrin deficiency in hereditary pyropoikilocytosis;Hanspal;Blood,1993

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