Investigating the interplay between iron (overload) and erythropoiesis in rare hereditary anemias.

Investigating the interplay between iron (overload) and erythropoiesis in rare hereditary anemias. - Effects of iron overload on erythropoiesis

Status

Recruiting

Phases

Unknown

Study type

Observational

Source

NL-OMON

Registry ID

NL-OMON49379

Enrollment

Registered

2020-10-07

Start date

2021-02-10

Completion date

Unknown

Last updated

2024-08-19

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

Conditions

congenital anemia rare hereditary anemia

Interventions

None listed

Eligibility

Age

2 Years to 99 Years

Inclusion criteria

Inclusion criteria: • Age > 12months • No blood transfusion within the past 4 weeks • Diagnosed with rare hereditary anemie, including sickle cell anemia, betathalassemia, spherocytosis, xerocytosis, pyruvate kinase deficiency (and other enzyme defects) Diamond- Blackfan Anemia, Congenital Dyserythropoietic Anemia. • Parents/legal guardians (and child, depending on age) or adult patients have given written informed consent

Exclusion criteria

Exclusion criteria: • Age

Design outcomes

Primary

Measure	Time frame
• To investigate key-regulators and cellular determinants of iron overload in RHA • To investigate the role of ferroptosis in ineffective erythropoiesis, RBC survival and RBC maturation in RHA.	—

Secondary

Measure	Time frame
• To investigate whether metabolomics can be used to study distinct and shared defects in iron homeostasis in rare hereditary anemias. • To investigate whether targeting hepcidin and/or ferroptosis can improve erythropoiesis and RBC defects.	—

Countries

Netherlands

Outcome results