Investigation of Humans with Informative Iron or Erythroid Phenotypes.

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Summary: Clinical studies with new technologies are needed to bridge basic and clinical knowledge of erythroid biology and related iron biology consistent with Roadmap goal of the NIH. These studies should enhance clinical activities within the intramural program aimed toward erythroid diseases. The current focus includes recruitment and study of patients with hemoglobinopathies, persistent fetal hemoglobin production, iron deficiency and iron overload. In addition, patient volunteers with other rare phenotypes are recruited for study. In addition to clinical assessment, blood samples are collected for laboratory and research purposes. One major focus of this project is the integration of clinical phenotype with genetic and genomic analyses aimed toward novel diagnostic, prognostic, and therapeutic approaches. In addition to patients seen on the intramural campus, national and international collaborative projects are being pursued in this regard.