Anemia; Drepanocytic
Conditions
Brief summary
Acute splenic sequestration is a frequent and life threatening complication occurring in approximately 10 % of homozygous children. Maximal incidence is between 6 and 18 months. The investigators formulate the hypothesis that there are clinical, biological and genetic markers predictive of severe complications notably acute splenic sequestration in SCD children. The present research project thus aims at analyzing in a forward-looking way the profile of severity by analysing clinical, biological and genetic characteristics in a multicentric cohort of 60 SCD children
Detailed description
A prospective multicentric analysis will be conducted in a cohort of 150 SS or S ß ° children diagnosed at birth, included at 3 -5 months and followed up to the age of 24 months. Five visits, superimposed to the usual follow-up of SCD children, (Recommendations of the High Authority of Health) at 3 months, 6 months, 12 months, 18 months and 24 months will allow a clinical evaluation and an additional sampling of blood (5 mL) at each visit. The samples will allow 1.analysis of the red blood cell phenotype (adhesion and deformability) and densities 2. the genetic profile 3.to establish a cell bank, a sera bank and a DNA bank, Spleen function in the cohort will be estimated by spleen scintigraphy, coupled with blood markers (pitted cells, Howell-Jolly bodies counts)
Interventions
PROCEDUREblood samples and scintigraphy
at 3 months, 6 months, 12 months, 18 months and 24 months will allow a clinical evaluation and an additional sampling of blood of 5 mL at each visit Scintigraphy at 6 months and 18 months
Sponsors
URC-CIC Paris Descartes Necker Cochin
Assistance Publique - Hôpitaux de Paris
Study design
Allocation
NA
Intervention model
SINGLE_GROUP
Primary purpose
PREVENTION
Masking
NONE
Eligibility
Sex/Gender
ALL
Age
3 Months to 6 Months
Healthy volunteers
No
Inclusion criteria
: * Children aged 3 to 6 months * homozygous (SS) or S beta° sickle cell disease diagnosed by neonatal screening * With no history of acute splenic sequestration * Signed parental consent * Patient covered by national insurance scheme or CMU
Exclusion criteria
: * Children with other SCD genotype * Children with congenital anatomical asplenia * Children with previous episode of acute splenic sequestration * Absence of possible follow-up * Simultaneous enrolment in another biomedical research
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Study of prognostic factors of acute splenic sequestration | after three years | * Complete blood count, reticulocyte count, haemoglobin level, VGM, TGMH, CCMH, hematocrit, % foetal haemoglobin (HbF), red blood cell densities (2 mL) * Deformability of red blood cells * Expression study of the cell surface molecule: Phosphatidyl serine, CD 36, READ B-CAM, CD 47, ICAM 4, VLA 4. (Cellulotheque = red blood cells frozen in cryopreservative conditions) * Total LDH, Bilirubine (stigmas of hemolysis) * Genetic Profil ( DNAtheque) |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Study of hematology parameters | after three years | * Percentage of Howell Jolly's bodies (0,1 mL) * Percentage of pitted cells (0,5 mL fixed in 4 %)formaldehyde * Splenic volume, semi-quantitative measure in scintigraphy * Antibody titers in answer to the antipneumococcic vaccination ( serotheque) |
Countries
France
Outcome results
None listed