Measuring TMPRSS6 expression to clarify genetic diagnosis in IRIDA

Measuring TMPRSS6 expression to clarify genetic diagnosis in IRIDA - Measuring TMPRSS6 expression in IRIDA

Status

Active, not recruiting

Phases

Unknown

Study type

Observational

Source

NL-OMON

Registry ID

NL-OMON43293

Enrollment

Registered

2016-05-23

Start date

2016-05-23

Completion date

Unknown

Last updated

2024-04-23

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

blood deficiency insenstive to oral iron treatment iron-refractory iron deficiency anemia

Interventions

None listed

Eligibility

Age

18 Years to 99 Years

Inclusion criteria

Inclusion criteria: - Living in the Netherlands - Be diagnosed with IRIDA or have a family member who is diagnosed with IRIDA - Earlier described by Donker et al. (unpublished data)

Exclusion criteria

Exclusion criteria: - Previously diagnosed with chronic liver, kidney or inflammatory disease - CRP * 10 -

Design outcomes

Primary

Measure	Time frame
The correlation between the relative amount of TMPRSS6 mRNA expression in EBV immortalized lymphoblasts and the IRIDA phenotype.	—

Secondary

Measure	Time frame
The correlation between the relative amount of TMPRSS6 mRNA expression in EBV immortalized lymphoblasts and the TMPRSS6 genotype.	—

Countries

Netherlands

Outcome results