1. Congenital amegakaryocytic thrombocytopenia—Report of a newc-mpl gene missense mutation
- Author
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Manuel Abecasis, A. Reichert, A Guimarães, Nuno Miranda, José Luís Passos-Coelho, M. Sebastião, L Vieira, Isabelina Ferreira, F. Leal-da-Costa, and P. Gameiro
- Subjects
Heterozygote ,medicine.medical_specialty ,Mutation, Missense ,Biology ,medicine.disease_cause ,Compound heterozygosity ,Genomic Imprinting ,Exon ,Internal medicine ,medicine ,Humans ,Missense mutation ,Mutation ,Hematology ,Heterozygote advantage ,medicine.disease ,Thrombocytopenia ,Pancytopenia ,Treatment Outcome ,Child, Preschool ,Immunology ,Congenital amegakaryocytic thrombocytopenia ,Female ,Megakaryocytes ,Receptors, Thrombopoietin ,Stem Cell Transplantation - Abstract
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.
- Published
- 2007
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