IRIDA = Iron Refractory Iron Deficiency Anemia IDA = Iron Deficiency Anemia, (NL:ijzergebreksanemie) hepcidin (NL: hepcidine) TSAT = transferrin saturation (NL ijzerverzadiging)
Conditions
Interventions
none
Sponsors
Maxima Medical Center, Veldhoven, The Netherlands
Eligibility
Inclusion criteria
Inclusion criteria: IRIDA group In order to be included in the IRIDA group a patient should meet the criteria for IRIDA: o Previous diagnosis as a mono-allelicorbi-allelicI RIDA patient with an IRIDA phenotype detected after clinical presentation o Presence of microcytic anemia (MCV 18years After confirmation of the prescreening criteria a subject should meet the following inclusion criteria to be included in the study: o Presence of microcytic anemia (MCV < 80 fL and Hb <7.5 mmol/L for women, Hb < 8.5 mmol/L for men) o Ferritin<40μg/L o Low TSAT (TSAT <10%) o Absence of inflammation(CRP<10mg/L) o Absence of pathological TMPRSS6 variants in exons of both alleles
Exclusion criteria
Exclusion criteria: Control group Subjects with the following criteria will not be able to participate in the study because these criteria interfere with the TSAT and hepcidin values. o Pregnancy o Oral iron supplements in the last 3 months before referral to the gynaecologist or gastrointestinal specialist o Diagnosis with any disease associated with inflammation including malignancies, chronic liver and kidney diseases
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Cut off point TSAT/hepcidin ratio for discrimination between IRIDA en IDA not because of IRIDA The main study outcome is a cut off point for the TSAT/hepcidin ratio that discriminates IRIDA from iron deficient anemia (IDA) because of other reasons than IRIDA with a high specificity. | — |
Secondary
| Measure | Time frame |
|---|---|
| TSAT/hepcidin ratio in IDA, to be compared with TSAT/hepcidin ratio in healthy individuals (established earlier) The study will generate data on the mean and interquartile ranges of the TSAT/hepcidin ratio of the IRIDA patients (n=17) and the mean and interquartile ranges of the TSAT/hepcidin ratio of the control group diagnosed with IDA because of other reasons than IRIDA. The data on the TSAT/hepcidin ratios in controls with IDA because of other reasons than IRIDA will be compared with data on TSAT/hepcidin ratios in healthy individuals that have been established earlier in order to determine if there is any difference between these groups. Number of pathological TMPRSS6 variants in IDA patients referred to gastro-enterologist and gynaecologist Pathological TMPRSS6 variants may be found in the control patients that have been referred to gastro-enterologist or gynaecologist for analysis of IDA. In these control patients IDA has been incorrectly exclusively attributed to gastrointestinal or gynaecological blood loss and/or malabsorption since IRIDA has not been considered earlier. | — |
Contacts
Public ContactAlbertine Donker
Outcome results
None listed