The transferrin saturation/hepcidin radio: a study on the diagnostic value in the differentiation of Iron Refractory Iron Deficiency Anemia from Iron Deficiency Anemia
- Conditions
- Iron Refractory Iron Deficiency Anemia (IRIDA)10018849
- Registration Number
- NL-OMON50596
- Lead Sponsor
- Maxima Medisch Centrum
- Brief Summary
Not available
- Detailed Description
Not available
Recruitment & Eligibility
- Status
- Completed
- Sex
- Not specified
- Target Recruitment
- 94
Inclusion of subjects in the IRIDA group will take place from a population
earlier studied by Donker et al, for these subjects clinical data are already
available. (Donker et al, Am J Hematol 2016), Inclusion of subjects in the
non-IRIDA, iron deficiency anemia group will take place at the gynaecological
department (women suffering from menorrhagia) and at the gastrointestinal
department (gastrointestinal blood loss and/or malabsorption), the cardiology
department, the ER of the Maxima Medical Center
IRIDA group
In order to be included in this study an IRIDA patient should meet the
following criteria:
- Previous diagnosis as a mono-allelic or bi-allelic IRIDA patient with an
IRIDA phenotype detected after clinical presentation
- Presence of microcytic anemia (MCV < 80 fL and Hb <7.5 mmol/L for women, Hb <
8.5 mmol/L for men)
- Transferrin saturation (TSAT) < 10%
- Absence of inflammation (CRP < 10 mg/L)
- Not or partially responsive to oral iron (responsiveness to oral iron defined
as Hb increment of 2 g/dL after 3 weeks of iron therapy)
- Age above 18 years
-TSAT/hepcidin ratio available, determined in the absence of inflammation,
Based on these criteria 4 patients in a population of 21 will be excluded
because either the patient was < 18 years or the TSAT/hepcidin ratio was not
available, or not available in the absence of inflammation.
The other 17 IRIDA patients will be included in the study; 11 IRIDA patients in
the bi-allelic affected group, with a homozygous or a compound heterozygous
TMPRSS6 defect, and 6 subjects in the mono-allelic affected group with a
heterozygous TMPRSS6 defect., Control group, Because the controls in the
SATURNUS study all have a microcytic anemia comparable with the IRIDA group,
the phenotype is not discriminative. Therefore, in all controls genotyping of
the exons of TMPRSS6 will be performed. A relevant phenotype, see below, in
combination with the absence of pathological TMPRSS6 variants on both alleles
will be defined as non-IRIDA and will be eligible as control. , Inclusion of
subjects in the control group will take place at the above mentioned
departments of the Máxima Medical Centrum Veldhoven and Radboudumc Nijmegen.
In order to be eligible to participate in this study a subject should meet the
following criteria:
o Presence of microcytic anemia (MCV <80 fL and Hb <7.5 mmol/L L for women, Hb
< 8.5 mmol/L for men)
o Ferritin <40 µg/L
o Age >18 years
o Low TSAT (TSAT <10%)
o Absence of inflammation (CRP < 10 mg/L)
o Absence of pathological TMPRSS6 variants in exons of both alleles, - After
counselling of a potential eligible patient by the Emergency Room doctor, the
cardiologist, the gastro-intestinal specialist or the gynaecologist, blood is
withdrawn for the determination of Hb, MCV, ferritin and CRP level. Extra blood
is withdrawn and stored for the determination of hepcidin and for DNA studies
on TMPRSS6 defects in case the subject had indeed an iron deficiency anemia
without inflammation and has given informed consent. In case the subject does
not meet the inclusion criteria or does not give informed consent, this extra
material will be destroyed.
IRIDA group: see above, D4a, inclusions already done, 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.
- Pregnancy
- Oral iron supplements in the last 3 months before referral to the
gynaecologist or gastrointestinal specialist
- Diagnosis with any disease associated with inflammation including
malignancies, chronic liver and kidney diseases
Study & Design
- Study Type
- Observational invasive
- Study Design
- Not specified
- Primary Outcome Measures
Name Time Method <p>The main study outcome is a cut off point for the TSAT/hepcidin ratio that<br /><br>discriminates IRIDA from iron deficient anemia (IDA) because of other reasons<br /><br>than IRIDA with a high specificity. </p><br>
- Secondary Outcome Measures
Name Time Method