IthaPhen, is a searchable and intuitive database of public anonymised case reports linked to haemoglobinopathies. IthaPhen integrates genotypic data with haematological, biochemical, histological, and clinical data and, through search queries of user-defined genotypes, it returns both the primary case level data and aggregated, visualised reports. Based on expert curation of published and contributed data, IthaPhen serves audiences with an interest in haemoglobinopathies, across research and health care, by facilitating genotype-phenotype correlation and interpretation of globin gene variants.
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