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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

Curating IREDs An illustration of the workflow is presented in Supplementary Fig

The compiled evidence was discussed during the second virtual meeting, and additional references were incorporated based on panel recommendations

A 5mg TB-500 vial reconstituted with 2mL produces 2.5mg/mL

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