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

Int J Lab Hematol. 2018 Aug;40(4):e66-e70. doi: 10.1111/ijlh.12837. Epub 2018 May 5.

Authors

P Franck¹, C Postma¹, A Spaans¹, M Veuger¹, G de Kort¹, C Hudig¹, P Wijermans², F Kuypers³

Affiliations

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.

PMID: 29729090
DOI: 10.1111/ijlh.12837

No abstract available

Publication types

Letter

MeSH terms

Elliptocytosis, Hereditary / genetics*
Elliptocytosis, Hereditary / pathology
Female
Humans
Male
Mutation*
Severity of Illness Index*
Spectrin / genetics*

Substances

Spectrin

Associated data

GENBANK/NG_011474.1
GENBANK/AH002999.1