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X-linked thrombocytopenia with thalassemia from a mutation in the amino finger of GATA-1 affecting DNA binding rather than FOG-1 interaction

doi: 10.1038/nature08185 13 KridinKZelber-SagiSComaneshterDCohenAD

Available from: 3.0.CO;2-O

Introduction -thalassemia is the most common inherited disease, characterized by decreased or absent -globin chain synthesis and hemoglobin A production ( The incidence of myocardial iron overload in transfusion-dependent -thalassemia patients has increased from 11.4%15.1% in early studies to 26.1%36.7% in recent studies ( As iron loading progresses, the capacity of transferrin to bind and detoxify iron is eventually exceeded, leading to non-transferrin-bound iron in plasma, which promotes oxidative stress, mitochondrial dysfunction, and ferroptosis ( Mechanisms of myocardial injury caused by iron overload Studies have shown that iron myocardial overload causes myocardial dysfunction

Acknowledgements This work was supported by the project SV2114-2024, project MH CZDRO (UHHK, 00179906) and CZ.10.03.01/00/22_003/0000048