Address of Corresponding Author

Acta Haematol 2005;114:113-116 (DOI: 10.1159/000086586)

  Key Words

• Anemia
• GATA-1
• Hematopoiesis
• Megakaryocytes
• Thrombocytopenia

  Abstract

Hematopoiesis is a complex process regulated by nuclear proteins that coordinate lineage-specific patterns of gene expression. Targeted mutagenesis has revealed critical roles for the X-linked transcription factor GATA-1 in erythrocyte and megakaryocyte differentiation. GATA-1 has two zinc fingers essential for normal function. The C-terminal finger is necessary for DNA binding. The N-terminal finger mediates interaction with FOG-1, a cofactor for GATA-1. Mutations in the N-terminal zinc finger of GATA-1 result in abnormal hematopoiesis. Here we report a family with a novel single base mutation that results in an amino acid substitution (Gly208Arg) within the highly conserved portion of the GATA-1 N-terminal finger domain, leading to dyserythropoietic anemia and macrothrombocytopenia. Another mutation described at the same codon (208) has been found to be associated with thrombocytopenia only. Our data support and extend the effect of the amino acid substitution at codon 208 on GATA-1 function not only regarding megakaryocyte but also regarding erythroid development.

Copyright © 2005 S. Karger AG, Basel

  Author Contacts

Domenico De Mattia, MD
Dipartimento di Biomedicina dell'Età Evolutiva, Università degli Studi di Bari
Piazza G. Cesare, 11
IT-70124 Bari (Italy)
Tel. +39 080 5478906, Fax +39 080 5592290, E-Mail demattia@bioetaev.uniba.it

  Article Information

Received: June 14, 2004
Accepted after revision: January 20, 2005
Number of Print Pages : 4
Number of Figures : 5, Number of Tables : 1, Number of References : 19