Analytical evaluation of the Capillarys 2 Flex piercing for routine haemoglobinopathies diagnosis.

To evaluate the analytical performance of a new capillary electrophoresis instrument, the Capillarys 2 Flex piercing (Sebia, France), allowing the separation and quantitative estimation of the different haemoglobin fractions from whole blood, in capped primary tube.The analytical precision for the determination of HbA2 and HbF percentages was satisfactory and within the range of previously published results for HPLC methods. The correlation between Capillarys 2 Flex Piercing and Bio-Rad Variant II HPLC system showed a linear correlation for HbA2, HbF and HbS measurements, and the analysis interpretation was the same whatever the method used. Conversely to HPLC method, the capillary's electrophoresis technology allowed HbE and Hb Lepore fraction separation from HbA2. We showed that the Capillarys 2 Flex Piercing is suitable for haemoglobinopathies diagnosis and screening and offers an excellent alternative to HPLC techniques as a first-line method or for confirmatory analysis.

Outcome of a school screening programme for carriers of haemoglobin disease.

OBJECTIVES: To assess the impact of a screening programme for haemoglobinopathies which was organised from 1978 to 1985 in high secondary schools of the Marseille region. METHODS: Several variables that reflected the influence of this preventive programme on the uptake of prenatal diagnosis were investigated. To evaluate the partner's uptake for the testing, a letter was sent, together with an anonymous questionnaire, to all the haemoglobin carriers detected in this programme. To evaluate the number of prenatal diagnoses, the charts of all couples from the Marseille area who underwent genetic counselling for haemoglobinopathies were compiled. The number of affected children born between 1980 to 2000 was recorded, and the cases in which one of the parents had previously been screened at school were noted. RESULTS: Half of the carriers replied to the questionnaire: 86% knew that they have to test their partner. Six carrier couples were identified, four asked for genetic counselling and requested eight prenatal diagnoses, two couples did not request genetic counselling and have had two affected children. CONCLUSIONS: Despite the time lapse between screening, informing, and pregnancy (mean 15 years), the information was well conserved and resulted in testing of the partner. The screening programme was effective in motivating requests for prenatal diagnosis.

[Genetic hemoglobin diseases. Prevention at centers for family planning and education of maternal-child protection in Marseille]. / Maladies génétiques de l'hémoglobine. Prévention dans les centres de planification et d'éducation familiale de la protection maternelle et infantile à Marseille.

OBJECTIVES: Diseases due to inherited hemoglobin disorders represent serious medical, social, and economic problems in the region of Marseille. The only effective treatment for such diseases is allogenic bone marrow transplantation. About 200 patients with either thalassemia, sickle cell or sickle cell-beta thalassemic diseases are regularly seen in local hospitals. All of these patients come from parts of the world where genetic hemoglobin disorders are endemic. METHODS: At this time, the only approach for reducing the number of affected children born is preventive. This depends upon education, the detection of carriers, genetic counselling and sometimes, prenatal diagnosis. We have organised a program of prevention supported by a grant from the DISS (Direction des Interventions Sociales et Sanitaires) in the context of visits made to the PMI (Prevention Maternelle et Infantile). This initiative concerns women presenting for consultations for three reasons: for a prenuptial check-up, for a pregnancy, and for prescription of contraceptives. RESULTS: In each of these three situations a check-up is obligatory and, for natives of countries where hemoglobin disorders are common, a hemoglobin test is recommended. If this test reveals an abnormality, the partner or husband is also tested, if he is willing. Couples who are both carriers are given genetic counselling. CONCLUSION: This preventive initiative has yielded valuable results so we hope to follow-up on the approach and extend it to other centers. Such screening, based upon the geographic origins of patients, can be implemented in the course of a consultation by any doctor.

[School screening of hemoglobinopathies in the Marseilles area. An analytic study of 35,289 tests]. / Dépistage scolaire des hémoglobinoses dans la région marseillaise. Etude analytique de 35,289 examens.

A systematic screening for thalassemias and hemoglobinopathies was performed in 35,289 children with a double test associating blood cell counts and hemoglobin electrophoresis. Four hundred thirty-seven (1.23%) hemoglobin abnormalities were found, consisting of 274 cases with thalassemia (0.77%) and 159 hemoglobinopathies (0.45%) among which there were 80 cases with sickle-cell trait (0.22%), 30 with hemoglobin C (Hb C) (0.08%), 19 with Hb D (0.05%), 12 with HbJ (0.03%), 12 with Hb E (0.03%). There was an obvious ethnic influence as, among 17,180 autochtonal French children, only 15 abnormalities were found (0.08%) while 392 were found in 16,850 non autochtonal children (2.32%) and 30 in 1,259 French children from Corsica (2.38%). The highest incidence was found in Italians (173 of 6,455-2.68%) and Maugrabins (105 of 3,014-3.48%).