Welcome to IthaPhen

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.

Query Ithaphen for --SEA/αα for example and explore the type of data it has to offer.
For more detailed information on how to perform IthaPhen queries, please constult the FAQ page.

Query Ithaphen for --SEA/αα for example and explore the type of data it has to offer.
Allele1 Allele2
Filter By Feature Variant Allele phenotype
e.g. α-globin
e.g. --SEA
e.g. α+
Filter By Feature Variant Allele phenotype
e.g. α-globin
e.g. --SEA
e.g. α+