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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
e.g. α-globin
A feature may be a gene or regulatory region, but it must be reported in ithagenes, prior to adding the phenotype associated with it
e.g. --SEA
If the genotype is not described in ithagenes already, please add it prior to adding the phenotype associated with it. Always add the oldest ithaID to allele 1; this is required so that case count in relevant searches is correct, as it is affected by allele order.
e.g. α+
e.g. α-globin
A feature may be a gene or regulatory region, but it must be reported in ithagenes, prior to adding the phenotype associated with it
e.g. --SEA
If the genotype is not described in ithagenes already, please add it prior to adding the phenotype associated with it. Always add the oldest ithaID to allele 1; this is required so that case count in relevant searches is correct, as it is affected by allele order.
e.g. α+
Provide one or multiple genotypes
Filter out records with queried variants co-inherited with variants on other genes or loci.
Subset by sex
Provide a range to filter age by


Genes 541
Variants 3487
Countries 215
HPLC 607
Experts 223
Organizations 179