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Congenital amegakaryocytic thrombocytopenia—Report of a new c‐mpl gene missense mutation
Author(s) -
PassosCoelho J.L.,
Sebastião M.,
Gameiro P.,
Reichert A.,
Vieira L.,
Ferreira I.,
Miranda N.,
Guimarães A.,
LealdaCosta F.,
Abecasis M.M.
Publication year - 2007
Publication title -
american journal of hematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.456
H-Index - 105
eISSN - 1096-8652
pISSN - 0361-8609
DOI - 10.1002/ajh.20756
Subject(s) - missense mutation , pancytopenia , compound heterozygosity , exon , medicine , mutation , thrombopoietin , cord blood , genetics , gene , biology , immunology , bone marrow , stem cell , haematopoiesis
A 44‐month old girl with congenital amegakaryocytic thrombocytopenia, already with pancytopenia, underwent an unrelated allogeneic cord blood transplantation with recovery of normal blood cell counts. The patient was a compound heterozygote for two c‐mpl missense mutations inherited from both parents, one of them, a G578A exon 4 mutation leading to a cysteine to tyrosine replacement of codon 193, previously unreported. Am. J. Hematol., 2007. © 2006 Wiley‐Liss, Inc.