Thalassemic Syndromes
Conditions
Keywords
Alpha-Hemoglobin Stabilizing Protein, alpha-Hb pool, thalassemias, diagnostic method, biomarker
Brief summary
Our project aims to assess and validate an innovative prognostic and diagnostic test in order to i) define a severity index of the β-thalassemia according to the free α-Hb pool for a better management of the patient; ii) differentiate the α-thalassemia and β-thalassemia and iii) follow the evolution of this pool in response to treatment of patients. In the future, this prognostic test based on the measurement of free α-Hb pool may be suitable for routine laboratory practice. To carry out this project, cohort of 85 thalassemic patients and a group of 50 healthy volunteers have been recruited.
Interventions
OTHERFree α-Hb pool analysis
Sponsors
Institut National de la Santé Et de la Recherche Médicale, France
Paris 12 Val de Marne University
Assistance Publique - Hôpitaux de Paris
Study design
Allocation
NA
Intervention model
SINGLE_GROUP
Primary purpose
DIAGNOSTIC
Masking
NONE
Eligibility
Sex/Gender
ALL
Age
18 Years to No maximum
Healthy volunteers
Yes
Inclusion criteria
Patient * Age ≥ 18 years * Written informed consent * Affiliation to social security * Known Hb Phenotypes * Biological phenotype corresponding to a classical picture of thalassemia Healthy volunteers * Age ≥ 18 years * Written informed consent * Affiliation to social security
Exclusion criteria
Patient * Transfusion for less than 3 months * Chronic active viral disease: hepatitis B, C, HIV * Ongoing infections or known inflammatory diseases * Hyper or Hypothyroidism known or subject treated by Levothyrox * Active pathology or tumor remission for less than 5 years * Oral corticosteroid * Hemoglobinopathy other than thalassemia for patients * Treatment by Hydroxyurea for more than 3 months * Treatment by stimulating agent erythropoiesis for longer than 3 months Healthy volunteers * Transfusion for less than 3 months * Chronic active viral disease: hepatitis B, C, HIV * Ongoing infections or known inflammatory diseases * Hyper or Hypothyroidism known or subject treated by Levothyrox * Active pathology or tumor remission for less than 5 years * Oral corticosteroid * Genetically related to person with hemoglobinopathy
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Correlation between the pool of free α-Hb and genotype α and β -globin of the patient and if necessary with the genotype AHSP gene | Day 1 |
Secondary
| Measure | Time frame |
|---|---|
| Correlation between the pool of free α-Hb and Mean Corpuscular Hb | Day 1 |
| Correlation between the pool of free α-Hb and Mean Cell Volume | Day 1 |
| Correlation between the pool of free α-Hb and Hb value | Day 1 |
| Correlation between the pool of free α-Hb and fetal Hb | Day 1 |
| Correlation between the pool of free α-Hb and erythrocyte enzymes | Day 1 |
| Correlation between the pool of free α-Hb and percent of reticulocytes | Day 1 |
Countries
France
Outcome results
None listed