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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 couselling 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. [ABSTRACT FROM AUTHOR]

Nowadays, the evaluation of elderly patients' eligibility for allogeneic stem cell transplantation (allo-SCT) is crucial. We evaluated the feasibility and efficacy of a multidimensional geriatric assessment, the Fondazione Italiana Linfomi (FIL) score, on a cohort of 228 patients older than 60 years submitted to allo-SCT in Italy and France from 2008 to 2018. Based on FIL score, available in 215 patients, 125 (58%) patients were classified as "fit" and 90 as "unfit/frail." The hematopoietic cell transplantation-specific comorbidity index (HCT-CI) was measured in 222 patients (97%); 71 (32%) patients had HCT-CI 0, 75 (34%) patients scored 1-2, and 76 (34%) ≥3. A total of 121 (53%) patients died after a median follow-up of 36 months. FIL score was found to highly predict survival, due to an excess of NRM in unfit/frail group, and confirmed its independent prognostic role on OS (HR: 0.37; 95% CI: 0.25-0.55; p < 0.0001). On the contrary, the HCI-CI failed in allo-SCT outcome prediction (HR: 1.06; 95% CI: 0.96-1.16; p = 0.27). In summary, a comprehensive geriatric assessment with FIL score seems to add significant prognostic information in elderly patients submitted to allo-SCT. The pretransplant adoption of this easy-to-use tool could help the patients' selection and management.

Objectives: Update the data collected in 1990 in order to assess the distribution and management of thalassemic patients presently living in Metropolitan France., Methods: A survey conducted in France in the clinical and biological departments of haematology permitted collection of epidemiological, clinical and biological data in a population of thalassemic patients followed-up in metropolitan France., Results: Analysis of the replies revealed a total of 362 thalassemia with 249 beta-thalassemia major, 81 beta-thalassemia intermedia and 32 E-beta thalassemia. These patients predominated in the East of France and in the large cities. The total number of patients has remained stable over the last decade and new cases are decreasing. Among the 249 patients presenting with a ss-thalassemia major, 42 had received a bone marrow graft, whereas 207 were systematically transfused and 189 regularly underwent iron chelating., Comments: Management is standardised and efficient but could be improved on with regard to iron chelating therapy.

Objective: Since 1986, quantification of G6PD activity has been a routine test for all babies born at the public maternity hospitals of Marseilles. The objective of our study was to determine the prevalence of G6PD deficiency in the population tested and to evaluate the relative risk of neonatal jaundice in newborns with G6PD deficiency., Methods: Neonatal screening is performed on cord blood by spectrophotometric measurements of G6PD activity. A group of 7779 newborns was studied retrospectively. The occurrence of neonatal jaundice was evaluated in 85 children with G6PD deficiency and compared to 85 children with normal G6PD activity., Results: The incidence of G6PD deficiency in male newborns was found to be 2.1%. The relative risk for neonatal jaundice in the G6PD deficient population compared to the non-deficient population is estimated to be 2.6., Conclusion: Neonatal jaundice with pathological hyperbilirubinemia develops more frequently in cases of G6PD deficiency. The early characterization of G6PD activity provides an etiological diagnosis for neonatal jaundice, as well as the opportunity to give the newborn's family information concerning hemolytic crisis prevention.

Two new fetal hemoglobin variants affecting the Ggamma chain are reported. Hb F-Clamart was found during investigation of a French newborn who presented with a mild microcytemia. The second variant was found during neonatal screening for hemoglobinopathies of 30,000 babies from a population-at-risk living in the Paris region. It was named Hb F-Ouled Rabah because its structural modification and ethnic distribution is similar to that of Hb D-Ouled Rabah [beta19(B1)Asn-->Lys]. Hb F-Ouled Rabah is clinically silent and occurs at a frequency of ca. 0.1% in newborns originating from Maghreb. Structural characterization of both variants was done by protein chemistry methods, including amino acids analysis and mass spectrometry.

Introduction: The Comoro archipelago is characterised by a high prevalence of red cell genetic disorders such as G6PD deficiency and haemoglobinopathies, being a region endemic for malaria. Over the last 15 years, the city of Marseilles in France has become the main destination for Comorian immigrants. This Comorian community includes patients with sickle cell disease, sickle cell/beta-thalassaemia trait, thalassaemias and G6PD deficiency., Materials and Methods: Allele frequencies for haemoglobin S, beta-thalassaemia and G6PD deficiency were determined from neonatal and prenatal screenings of the Comorian community. Haemoglobin fractions were detected by isoelectrofocalisation, and the quantitation of HbS, HbA, HbA(2) and HbF was performed by cation exchange high performance liquid chromatography. The molecular study involved 31 alleles carrying the betaS mutation (Cd 6 [A-->T]), six beta-thalassaemic alleles and 17 G6PD-deficient alleles, selected from a group of carriers or affected subjects., Results: Allele frequencies were 3% for haemoglobin S, 1% for beta-thalassaemia trait and 9.5% for G6PD deficiency. Molecular analysis had revealed that the African alleles are predominant, being present in almost all the subjects studied. Mediterranean alleles were found for all the beta-thalassaemia mutations and for three G6PD chromosomes out of 17., Conclusion: These data are consistent with the mixed Arab and African origin of the population of the Comoro Islands, and are of clinical interest in prenatal and newborn screening plans.

We report two new substitutions, IVS-I-108 (T-->C) and -27 (A-->T), identified in a couple at risk for beta-thalassemia. One is of Iranian origin and presents with two mutations: a new substitution of T-->C at nucleotide IVS-I-108, which is a silent polymorphism, and a previously described beta-thalassemia mutation at nucleotide -28 (A-->C). The other is from the island of Corsica, the only place in France where beta-thalassemia is endemic. He presents a new substitution of A-->T at nucleotide -27 in the TATA box, which was also found in several members of his family with the beta-thalassemia trait. The fetus was found to have inherited both these novel mutations.

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.

The number of subjects with heterozygous beta-thalassaemia and sickle-cell anaemia in metropolitan France can be evaluated by the distribution of populations originating from countries with a high prevalence of genetic haemoglobinopathies. Taking into account the movements of these populations observed since the 1982 census, the current prevalences of beta-thalassaemic and drepanocytic traits are higher than the figures of 180,000 and 130,000 respectively found at that date. On the other hand, it appears from episodic screenings performed during the last few years that the percentage of subjects with heterozygous beta-thalassaemia is 3.09% in Corsica, 0.77% in school-age population in the Marseille area, and 0.72% in the general population of Marseille, Toulon and Nice. In 1992, the number of patients with heterozygous beta-thalassaemia and with major sickle-cell syndrome is estimated at 250-350 and 1000-3000 respectively. Patients with sickle-cell anemia predominate in the Paris area, whereas those with heterozygous beta-thalassemia predominate in the provinces, notably in the Provence-Côte d'Azur and Corsica regions.

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%).