Glossary

  • Chloroplast DNA

    constitutes the chloroplast genome: transmitted only by mothers, very little variation over time, makes it possible to track maternal lineages

  • Mitochondrial DNA

    constitutes the mitochondrial genome: transmitted only by mothers, very little variation over time, makes it possible to track maternal lineages

  • Apoptosis

    ability to induce programmed cell death

  • Blood-brain barrier Barrier (BBB)

    barrier between the peripheral blood and central nervous system

  • Endothelial cell

    specialized cell that is part of the composition of blood vessels

  • NK cells

    class of immune cells with a cytotoxic function

  • Chloroplasts

    cellular compartments in plants responsible for photosynthesis. Transmitted only by mothers.

  • Cytoadherence

    ability to adhere to cells, particularly endothelial cells

  • Epitope

    immunogenic protein fragment

  • Phylogenetic Study

    Development study of the genetic evolution of a living being (micro-organism, plant, animal)

  • Hepatocyte

    specialized liver cells

  • Hepatoma

    malignant liver tissue cell

  • Isolate

    a parasite strain isolated from the field

  • Deep microvascular beds

    small blood vessels in the deep tissues, in particular the brain

  • Mitochondria

    cellular structures in animals, responsible for energy synthesis. Transmitted only by mothers.

  • Pathogenicity

    ability to induce disease

  • PBMC

    peripheral blood mononuclear cells

  • Phenotypic

    related to the structure

  • Phylogeography

    analysis that also takes into account the geographical distribution of the lines studied

  • Primatology

    study of the species of the order of primates

  • Primatologist

    someone who specializes in the science of primates.

  • CTL response

    cytotoxic immune response

  • Reservoir

    animal species that hosts a pathogen over a long period

  • Trypanosomiasis

    sleeping sickness

Haematology Study Unit

The Haematology Study Unit focuses on diseases related to red blood cells, such as sickle cell disease. It has two divisions:

- A diagnostic laboratory located in Libreville, at the University of Health Sciences, Faculty of Medicine

- A molecular genetics laboratory located at the CIRMF in Franceville where DNA investigations are performed

OBJECTIVES

- Development of a routine screening test for sickle cell disease

- Diagnosis of genetic blood disorders.

TEAM

_Lucas-SICA-Head of Unit : Dr Lucas SICA

Molecular Genetics Laboratory

  • Dr Lucas SICA
  • Simon OSSARI

Diagnostic Laboratory for Sickle Cell Disease

  • Jérôme MEZUI
  • Thélesfort MBANG MBORO

ACTIVITIES

Molecular Genetics Laboratory :

- Molecular Diagnostics by DNA analysis: PCR, Reverse dot blot (RDB), Southern blot, Nucleotide Sequencing.

- Biobank. The samples are stored in refrigerated cabinets. Currently, more than 500 samples of each type are stored at the Molecular Genetics Laboratory in Franceville.


Diagnostic Laboratory for Sickle Cell Disease

- Diagnosis of sickle cell disease using iso-electrofocusing (IEF) and HPLC. The Laboratory infrastructure was set up from September 2006 to March 2007 (renovation, equipment installation and safety upgrades)

- Database

Development of a routine neonatal screening program for sickle cell disease in Gabon

Sickle cell disease (SCD), with a high morbidity and mortality rate, is a major health problem in Gabon, with the prevalence of sickle cell trait as high as 25%. In developed countries, screening of newborns with a comprehensive continuum of care (preventive antibiotics, vaccinations, oral administration of folic acid) has reduced morbidity and mortality from sickle cell disease.

To assess the magnitude of the problem and provide a basis for a realistic and pragmatic policy for the control and prevention of sickle cell disease, we have put in place in Libreville, with support from the International Atomic Energy Agency (IAEA ), a routine screening program for newborns coupled with confirmatory diagnosis by DNA.

This program will enable us to diagnose SDC at birth and, with the assistance of the National Programme to Control Sickle Cell Disease, initiate ongoing care arranged and paid for by the health care system in Gabon. It will also serve as the basis for the development of genetic counselling for couples in order to make a prenatal diagnosis.

Generally speaking, the objective of this program is to help establish an effective sickle cell disease control and prevention program in Gabon to significantly reduce infant morbidity and mortality. The specific objectives are to establish inexpensive molecular screening techniques, distribute appropriate information on sickle cell disease to the populations, raise awareness within the government and help develop a national program for health coverage and continuing care for sickle cell disease patients.

 

RESOURCES

The program received a mission of experts from the International Atomic Energy Agency (IAEA) to support the launch of the newborn screening program in Libreville.

 

TRAINING

- Training of Midwives in maternity wards
- Training of medical teams in maternity wards

 

PARTNERSHIPS

The Faculty of Medicine of Libreville (University of Health Sciences) has agreed to indefinitely make the current premises of the Sickle Cell Disease Diagnostic Laboratory available free of charge (excluding renovation work) to the CIRMF, and provide electricity and water. In turn, we host students for short-term practical training internships.

Hospital staff: partnership with medical teams at the Josephine Bongo maternity clinic, the Jeanne Ebory Foundation, the Estuary Regional Hospital in Mélen, Omar Bongo Ondimba Army Hospital, Amissa Bongo Regional Hospital in Franceville, Makokou Regional Hospital, TOTAL-Gabon Medical Center, Port-Gentil Regional Hospital and Paul Igamba Hospital in Port-Gentil for providing information to mothers, streamlining collection of cord blood samples, and reporting the results of testing.

Laboratory of Biochemical Genetics, Hôpital Robert Debré, Paris, France, which transferred this technology to the CIRMF by training the staff of the Sickle Cell Disease Diagnostic Laboratory in iso-electrofocusing techniques and HPLC used in the screening for sickle cell disease. This laboratory also provides quality control of our tests.

INSERM unit 763 (Laboratory of Dr. Rajagopal Krishnamoorthy), Hôpital Robert Debré Paris, France, which trained the staff of the CIRMF Laboratory of Molecular Genetics in molecular biology techniques (PCR-RDB) applied to the genetic analysis of the beta-globin gene locus. This technique is used to perform screening tests (confirmation) for sickle cell disease using DNA. As part of this partnership, the laboratory will assist the CIRMF Molecular Genetics Laboratory in implementing these specialized diagnostic techniques.