Genotype - phenotype correlation in congenital sideroblastic anemia

Genotype - phenotype correlation in congenital sideroblastic anemia - Genotype - phenotype correlation in congenital sideroblastic anemia

Status

Recruiting

Phases

Unknown

Study type

Observational

Source

NL-OMON

Registry ID

NL-OMON33231

Enrollment

Registered

2009-06-16

Start date

2009-08-26

Completion date

Unknown

Last updated

2024-05-06

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

Conditions

congenital sideroblastic anemia inherited anemia with iron overload

Interventions

None listed

Eligibility

Age

18 Years to 99 Years

Inclusion criteria

Inclusion criteria: Familymembers of a known family with sideroblastic anemia

Exclusion criteria

Exclusion criteria: none

Design outcomes

Primary

Measure	Time frame
Which gene defect is responsible for the sideroblastic hallmarks previously found in this family?	—

Secondary

Measure	Time frame
What is the correlation between the phenotype and genotype in this family?	—

Countries

Netherlands

Outcome results