Search

Your search keyword '"Abbes, S."' showing total 230 results
Start Over Author "Abbes, S."
230 results on '"Abbes, S."'

14. The impact of contextual variables on Tunisian public transit efficiency: a two-stage bootstrapped approach.

Author

Abbes, S. and Mezghani, M. A.

Subjects
*PUBLIC transit, *DATA envelopment analysis, *TUNISIANS, *OLDER people, *URBAN planners, *POPULATION density
Abstract

The purpose of this paper is to examine technical efficiency in the Tunisian public transit system and its determinants through parametric and non-parametric techniques. Our analysis is based on a sample of a 12- bus transit company over the 2000-2017 period. We have conducted a two-stage analysis. First, we evaluated input-oriented Data Envelopment Analysis (DEA) scores under ctifferent assumptions. Then we regressed efficiency scores on potential contextual variables using the bootstrapped regression and right truncated regression. The DEA results show that the average efficiency scores range from 0.5 to I. Accorcting to the right-truncated and the bootstrapped-truncated regression; the proportion of subsicties, vehicle age and population density were identified as factors that significantly deteriorate efficiency. Conversely, network density and the existence of universities in the considered region improve efficiency. The calculation of margin effects highlights the importance of vehicle age and network density, compared to the other variables. Our study makes a significant contribution to the literature by employing a new contextual variable, and by conducting the Simar-Wilson bootstrapping analysis using input-oriented DEA scores. The finctings of this study provide also useful observations and insights for urban planners and policymakers across cities. [ABSTRACT FROM AUTHOR]

Published
2022
Full Text
View/download PDF

22. Microsatellite/RFLP haplotype analysis at the G6PD locus: Implications for the origin of malarial resistance in humans

Author

Tishkoff, S.A., Abbes, S., Argyropolous, G., Destro-Bisol, G., Drousiotou, A., Lefranc, G., Loiselet, J., Piro, A., Stoneking, M., Tagarelli, A., Tagarelli, G., Touma, E., Williams, S., Jenkins, T., and Clark, A.G.

Subjects
Glucose-6-phosphate dehydrogenase deficiency -- Research, Genetic research -- Analysis, Malaria -- Genetic aspects, Biological sciences
Published
2000

24. Molecular basis of pyruvate kinase deficiency among Tunisians: description of new mutations affecting coding and noncoding regions in thePKLRgene

Author

Jaouani, M., primary, Manco, L., additional, Kalai, M., additional, Chaouch, L., additional, Douzi, K., additional, Silva, A., additional, Macedo, S., additional, Darragi, I., additional, Boudriga, I., additional, Chaouachi, D., additional, Fitouri, Z., additional, Van Wijk, R., additional, Ribeiro, M. L., additional, and Abbes, S., additional

Published
2017
Full Text
View/download PDF

27. [Polymorphisms of the UDP-glucuronosyltransferase 1-A1 gene in Tunisian population]

Author

Chaouch**, L., Mahjoubi**, I., Louati, I., Mrad, R., Douzi, K., Ghanem, A., Abbes, S., Laboratoire d'hématologie moléculaire et cellulaire (LR11IPT07), Institut Pasteur de Tunis, Réseau International des Instituts Pasteur (RIIP)-Réseau International des Instituts Pasteur (RIIP), Université de Tunis El Manar (UTM), Service de pédiatrie [Grombalia, Tunisie], Hôpital Grombalia, Service de Biochimie [Grombalia, Tunisia], Service de biochimie, Centre de traumatologie et des grands brulés de Ben Arous [Hôpital Mohamed-Bouazizi, Tunisie], and Cet article a fait l’objet du soutien financier du ministère de l’enseignement supérieur et de la recherche scientifique de Tunisie (LR 05 SP 04)

Subjects
Male, Tunisia, Crigler Najjar’s syndrome, Gilbert’s syndrome, MESH: Glucuronosyltransferase, polymorphisme A(TA)n TAA, Young Adult, structure haplotypique, MESH: Polymorphism, Genetic, Humans, Glucuronosyltransferase, glucuronoconjugaison, syndrome de Gilbert, MESH: Humans, Polymorphism, Genetic, glucuronidation, [SDV.MHEP.HEM]Life Sciences [q-bio]/Human health and pathology/Hematology, polymorphism G211A, UDP-glucuronosyltransferase 1A1, polymorphism A(TA)n TAA, polymorphisme G211A, MESH: Male, bilirubine, syndrome de Crigler Najjar, MESH: Young Adult, haplotype structure, UDP-glucuronosyltransférase 1A1, Female, bilirubin, MESH: Tunisia, MESH: Female
Abstract

equal contribution; International audience; The UDP-glucuronosyltransferase 1A1 gene that encode the enzyme UGT1A1 responsible for glucuronidation undergoes several variations that may affect the enzymatic activity or expression and which are the cause of metabolic disorders related to the glucuronidation of bilirubin, such as Gilbert's syndrome and Crigler Najjar's syndrome. Among the most common variations, there is the repeat polymorphism A (TA) n TAA in TATA box and biallelic mutation G211A in exon 1. We consider in this work to determine their frequencies in a healthy population. The polymorphism A (TA) n TAA showed that genotype [TA7/TA7] was described as being associated with Gilbert's syndrome and was encountered in 11% of the population studied. This percentage is close to the value described in the Caucasian population, estimated at 10%. Concerning the polymorphism G211A, our results show that the mutated allele is encountered in 15.7% of our study population. This frequency differs greatly from that reported for Caucasians and Afro-Americans but it is similar to that perceived at the Japanese. All these results suggest that the Tunisian population appears to be heterogeneous view UGT1A1 gene mutation status. Regarding the origins and distribution of such polymorphisms in our population, the study reveals a high haplotypic haplotype (TA) 6-G considered ancestral. The comparison of the haplotype structure generally leads to the development of a hypothetical tree of the origin and spread of different haplotypes.; Le gène UDP-glucuronosyltransferase 1A1 qui code pour l’enzyme de glucuroconjugaison, UGT1A1 est le siège de plusieurs variations qui peuvent affecter l’activité ou l’expression enzymatique. Ces dernières sont à l’origine de troubles métaboliques liés à la glucuronoconjugaison de la bilirubine tels que le syndrome de Gilbert et le syndrome de Crigler Najjar. Parmi les variations les plus étudiées, on note le polymorphisme de répétition A(TA)n TAA situé dans la boite TATA au niveau du promoteur et la mutation biallélique G211A au niveau de l’exon 1. Vue l’importance de ces deux mutations, nous envisageons dans ce travail de déterminer leurs fréquences dans une population saine. Le polymorphisme A(TA)n TAA montre que le génotype [TA7/TA7] qui a été décrit comme associé à la maladie de Gilbert était rencontré chez 11% de la population étudiée. Ce pourcentage est proche de la valeur décrite dans la population Caucasienne, estimée à 10%. Concernant le polymorphisme G211A, nos résultats montrent que l’allèle muté est rencontré chez 15.7% de notre population. Cette fréquence s’écarte beaucoup de celle rapportée pour les Caucasiens et les Afro-américains mais elle est similaire à celle rapportée pour les Japonais. L’ensemble de ces résultats suggère que la population Tunisienne semble être hétérogène du point de vue statut mutationnel du gène UGT1A1. En ce qui concerne les origines et la répartition de tels polymorphismes dans notre population, l’étude haplotypique révèle une grande hétérogénéité et une émergence particulière de l’haplotype (TA)6-G considéré comme ances-tral. La comparaison de la structure haplotypique générale conduit à l’élaboration d’un arbre hypothétique concernant l’origine et la propagation des différents haplotypes

Published
2013

28. Blood CD9+B cell, a biomarker of bronchiolitis obliterans syndrome after lung transplantation

Author

Brosseau, Carole, Danger, Richard, Durand, Maxim, Durand, Eugénie, Foureau, Aurore, Lacoste, Philippe, Tissot, Adrien, Roux, Antoine, Reynaud‐Gaubert, Martine, Kessler, Romain, Mussot, Sacha, Dromer, Claire, Brugière, Olivier, Mornex, Jean François, Guillemain, Romain, Claustre, Johanna, Magnan, Antoine, Brouard, Sophie, Jougon, J., Velly, J.‐F., Rozé, H., Blanchard, E., Antoine, M., Cappello, M., Ruiz, M., Sokolow, Y., Vanden Eynden, F, Van Nooten, G., Barvais, L., Berré, J., Brimioulle, S., De Backer, D., Créteur, J., Engelman, E, Huybrechts, I., Ickx, B., Preiser, T.J.C., Tuna, T., Van Obberghe, L., Vancutsem, N., Vincent, J.‐L., De Vuyst, P., Etienne, I., Féry, F., Jacobs, F., Knoop, C., Vachiéry, J.L., Van den Borne, P., Wellemans, I., Amand, G., Collignon, L., Giroux, M., Angelescu, D., Chavanon, O., Hacini, R., Martin, C., Pirvu, A., Porcu, P., Albaladejo, P., Allègre, C., Bataillard, A., Bedague, D., Briot, E., Casez‐Brasseur, M., Colas, D., Dessertaine, G., Francony, G., Hebrard, A., Marino, M.R., Protar, D., Rehm, D., Robin, S, Rossi‐Blancher, M., Augier, C., Bedouch, P., Boignard, A., Bouvaist, H., Briault, A., Camara, B., Chanoine, S., Dubuc, M., Quétant, S., Maurizi, J., Pavèse, P., Pison, C., Saint‐Raymond, C., Wion, N., Chérion, C., Grima, R., Jegaden, O., Maury, J.‐M., Tronc, F., Flamens, C., Paulus, S., Philit, F., Senechal, A., Glérant, J.‐C., Turquier, S., Gamondes, D., Chalabresse, L., Thivolet‐Bejui, F., Barnel, C., Dubois, C., Tiberghien, A., Pimpec‐Barthes, F., Bel, A., Mordant, P., Achouh, P., Boussaud, V., Méléard, D., Bricourt, M.O., Cholley, B., Pezella, V., Brioude, G., D'Journo, X.B., Doddoli, C., Thomas, P., Trousse, D., Dizier, S., Leone, M., Papazian, L., Bregeon, F., Coltey, B., Dufeu, N., Dutau, H., Garcia, S., Gaubert, J.Y., Gomez, C., Laroumagne, S., Mouton, G., Nieves, A., Picard, Ch., Rolain, J.M., Sampol, E., Secq, V., Perigaud, C., Roussel, J.C., Senage, T., Mugniot, A., Danner, I., Haloun, A., Abbes, S., Bry, C., Blanc, F.X., Lepoivre, T., Botturi‐Cavaillès, K., Loy, J., Bernard, M., Godard, E., Royer, P.‐J., Henrio, K., Dartevelle, Ph., Fabre, D., Fadel, E., Mercier, O., Stephan, F., Viard, P., Cerrina, J., Dorfmuller, P., Feuillet, S., Ghigna, M., Hervén, Ph., Le Roy Ladurie, F., Le Pavec, J., Thomas de Montpreville, V., Lamrani, L., Castier, Y., Mordant, P., Cerceau, P., Augustin, P., Jean‐Baptiste, S., Boudinet, S., Montravers, P., Dauriat, G., Jébrak, G., Mal, H., Marceau, A., Métivier, A.‐C., Thabut, G., Lhuillier, E., Dupin, C., Bunel, V., Falcoz, P., Massard, G., Santelmo, N., Ajob, G., Collange, O., Helms, O., Hentz, J., Roche, A., Bakouboula, B., Degot, T., Dory, A., Hirschi, S., Ohlmann‐Caillard, S., Kessler, L., Schuller, A., Bennedif, K., Vargas, S., Bonnette, P., Chapelier, A., Puyo, P., Sage, E., Bresson, J., Caille, V., Cerf, C., Devaquet, J., Dumans‐Nizard, V., Felten, M.L., Fischler, M., Si Larbi, A.G., Leguen, M., Ley, L., Liu, N., Trebbia, G., De Miranda, S., Douvry, B., Gonin, F., Grenet, D., Hamid, A.M., Neveu, H., Parquin, F., Picard, C., Stern, M., Bouillioud, F., Cahen, P., Colombat, M., Dautricourt, C., Delahousse, M., D'Urso, B., Gravisse, J., Guth, A., Hillaire, S., Honderlick, P., Lequintrec, M., Longchampt, E., Mellot, F., Scherrer, A., Temagoult, L., Tricot, L., Vasse, M., Veyrie, C., Zemoura, L., Dahan, M., Murris, M., Benahoua, H., Berjaud, J., Le Borgne Krams, A., Crognier, L., Brouchet, L., Mathe, O., Didier, A., Krueger, T., Ris, H.B., Gonzalez, M., Aubert, J.‐D., Nicod, L.P., Marsland, B.J., Berutto, T.C., Rochat, T., Soccal, P., Jolliet, Ph., Koutsokera, A., Marcucci, C., Manuel, O., Bernasconi, E., Chollet, M., Gronchi, F., Courbon, C., Hillinger, S., Inci, I., Kestenholz, P., Weder, W., Schuepbach, R., Zalunardo, M., Benden, C., Buergi, U., Huber, L.C., Isenring, B., Schuurmans, M.M., Gaspert, A., Holzmann, D., Müller, N., Schmid, C., Vrugt, B., Rechsteiner, T., Fritz, A., Maier, D., Deplanche, K., Koubi, D., Ernst, F., Paprotka, T., Schmitt, M., Wahl, B., Boissel, J.‐P., Olivera‐Botello, G., Trocmé, C., Toussaint, B., Bourgoin‐Voillard, S., Séve, M., Benmerad, M., Siroux, V., Slama, R., Auffray, C., Charron, D., Lefaudeux, D., and Pellet, J.

Abstract

Bronchiolitis obliterans syndrome is the main limitation for long‐term survival after lung transplantation. Some specific B cell populations are associated with long‐term graft acceptance. We aimed to monitor the B cell profile during early development of bronchiolitis obliterans syndrome after lung transplantation. The B cell longitudinal profile was analyzed in peripheral blood mononuclear cells from patients with bronchiolitis obliterans syndrome and patients who remained stable over 3 years of follow‐up. CD24hiCD38hitransitional B cells were increased in stable patients only, and reached a peak 24 months after transplantation, whereas they remained unchanged in patients who developed a bronchiolitis obliterans syndrome. These CD24hiCD38hitransitional B cells specifically secrete IL‐10 and express CD9. Thus, patients with a total CD9+B cell frequency below 6.6% displayed significantly higher incidence of bronchiolitis obliterans syndrome (AUC = 0.836, PPV = 0.75, NPV = 1). These data are the first to associate IL‐10‐secreting CD24hiCD38hitransitional B cells expressing CD9 with better allograft outcome in lung transplant recipients. CD9‐expressing B cells appear as a contributor to a favorable environment essential for the maintenance of long‐term stable graft function and as a new predictive biomarker of bronchiolitis obliterans syndrome–free survival. In lung transplant patients with bronchiolitis obliterans syndrome and patients who remained stable over 3 years of follow‐up, IL‐10–secreting CD24hiCD38hi transitional B cells expressing CD9 are associated with better allograft outcome, suggesting CD9‐expressing B cells as a new predictive biomarker of bronchiolitis obliterans syndrome–free survival.

Published
2019
Full Text
View/download PDF

29. [Polymorphisms of the UDP-glucuronosyltransferase 1-A1 gene in Tunisian population]

Author

Chaouch**, L., Mahjoubi**, I., Louati, I., Mrad, R., Douzi, K., Ghanem, A., Abbes, S., Laboratoire d'hématologie moléculaire et cellulaire (LR11IPT07), Institut Pasteur de Tunis, Réseau International des Instituts Pasteur (RIIP)-Réseau International des Instituts Pasteur (RIIP), Université de Tunis El Manar (UTM), Service de pédiatrie [Grombalia, Tunisie], Hôpital Grombalia, Service de Biochimie [Grombalia, Tunisia], Service de biochimie, Centre de traumatologie et des grands brulés de Ben Arous [Hôpital Mohamed-Bouazizi, Tunisie], and Cet article a fait l’objet du soutien financier du ministère de l’enseignement supérieur et de la recherche scientifique de Tunisie (LR 05 SP 04)

Subjects
MESH: Humans, Crigler Najjar’s syndrome, glucuronidation, [SDV.MHEP.HEM]Life Sciences [q-bio]/Human health and pathology/Hematology, Gilbert’s syndrome, polymorphism G211A, UDP-glucuronosyltransferase 1A1, polymorphism A(TA)n TAA, MESH: Glucuronosyltransferase, polymorphisme G211A, MESH: Male, polymorphisme A(TA)n TAA, bilirubine, syndrome de Crigler Najjar, MESH: Young Adult, structure haplotypique, MESH: Polymorphism, Genetic, haplotype structure, UDP-glucuronosyltransférase 1A1, bilirubin, MESH: Tunisia, MESH: Female, glucuronoconjugaison, syndrome de Gilbert
Abstract

equal contribution; International audience; The UDP-glucuronosyltransferase 1A1 gene that encode the enzyme UGT1A1 responsible for glucuronidation undergoes several variations that may affect the enzymatic activity or expression and which are the cause of metabolic disorders related to the glucuronidation of bilirubin, such as Gilbert's syndrome and Crigler Najjar's syndrome. Among the most common variations, there is the repeat polymorphism A (TA) n TAA in TATA box and biallelic mutation G211A in exon 1. We consider in this work to determine their frequencies in a healthy population. The polymorphism A (TA) n TAA showed that genotype [TA7/TA7] was described as being associated with Gilbert's syndrome and was encountered in 11% of the population studied. This percentage is close to the value described in the Caucasian population, estimated at 10%. Concerning the polymorphism G211A, our results show that the mutated allele is encountered in 15.7% of our study population. This frequency differs greatly from that reported for Caucasians and Afro-Americans but it is similar to that perceived at the Japanese. All these results suggest that the Tunisian population appears to be heterogeneous view UGT1A1 gene mutation status. Regarding the origins and distribution of such polymorphisms in our population, the study reveals a high haplotypic haplotype (TA) 6-G considered ancestral. The comparison of the haplotype structure generally leads to the development of a hypothetical tree of the origin and spread of different haplotypes.; Le gène UDP-glucuronosyltransferase 1A1 qui code pour l’enzyme de glucuroconjugaison, UGT1A1 est le siège de plusieurs variations qui peuvent affecter l’activité ou l’expression enzymatique. Ces dernières sont à l’origine de troubles métaboliques liés à la glucuronoconjugaison de la bilirubine tels que le syndrome de Gilbert et le syndrome de Crigler Najjar. Parmi les variations les plus étudiées, on note le polymorphisme de répétition A(TA)n TAA situé dans la boite TATA au niveau du promoteur et la mutation biallélique G211A au niveau de l’exon 1. Vue l’importance de ces deux mutations, nous envisageons dans ce travail de déterminer leurs fréquences dans une population saine. Le polymorphisme A(TA)n TAA montre que le génotype [TA7/TA7] qui a été décrit comme associé à la maladie de Gilbert était rencontré chez 11% de la population étudiée. Ce pourcentage est proche de la valeur décrite dans la population Caucasienne, estimée à 10%. Concernant le polymorphisme G211A, nos résultats montrent que l’allèle muté est rencontré chez 15.7% de notre population. Cette fréquence s’écarte beaucoup de celle rapportée pour les Caucasiens et les Afro-américains mais elle est similaire à celle rapportée pour les Japonais. L’ensemble de ces résultats suggère que la population Tunisienne semble être hétérogène du point de vue statut mutationnel du gène UGT1A1. En ce qui concerne les origines et la répartition de tels polymorphismes dans notre population, l’étude haplotypique révèle une grande hétérogénéité et une émergence particulière de l’haplotype (TA)6-G considéré comme ances-tral. La comparaison de la structure haplotypique générale conduit à l’élaboration d’un arbre hypothétique concernant l’origine et la propagation des différents haplotypes

Published
2011

30. A silent composite hemoglobinopathy characterized by gene sequencing

Author

Zorai A, imen moumni, Benmansour I, Chaouachi D, Ghanem A, Abbes S, Laboratory of Molecular and Cellular Hematology, Laboratoire d'hématologie moléculaire et cellulaire (LR11IPT07), Institut Pasteur de Tunis, Réseau International des Instituts Pasteur (RIIP)-Réseau International des Instituts Pasteur (RIIP)-Institut Pasteur de Tunis, Réseau International des Instituts Pasteur (RIIP)-Réseau International des Instituts Pasteur (RIIP), Département de biochimie, Université de Tunis El Manar (UTM), and This work has been supported by ' la direction de la recherche scientifique, ministère de l'enseignement supérieur et de la recherche scientifique de Tunisie, laboratoire ' LR05SP04 '

Subjects
Adult, Hb O-Arab/ β°-thalassemia association, MESH: Sequence Analysis, DNA, MESH: Humans, MESH: Adult, [SDV.MHEP.HEM]Life Sciences [q-bio]/Human health and pathology/Hematology, Sequence Analysis, DNA, Chronic anemia, Hemoglobinopathies, MESH: Hemoglobinopathies, hemic and lymphatic diseases, Humans, Female, [SDV.BBM]Life Sciences [q-bio]/Biochemistry, Molecular Biology, DNA sequencing, MESH: Female
Abstract

International audience; We report the case of a 35-year-old Tunisian women with a chronic anemia non investigated for a long time. Laboratory analysis using advanced technology of DNA sequencing revealed a compound heterozygote for Hb O Arab and cd 39 beta degrees-thalassemia. It's the first time that such a genotype has been characterized by gene sequencing.

Published
2011

34. Pre-transplant prognostic factors of long-term survival after allogeneic peripheral blood stem cell transplantation with matched related/unrelated donors

Author

Servais, S., primary, Porcher, R., additional, Xhaard, A., additional, Robin, M., additional, Masson, E., additional, Larghero, J., additional, Ribaud, P., additional, Dhedin, N., additional, Abbes, S., additional, Sicre, F., additional, Socie, G., additional, and de Latour, R. P., additional

Published
2013
Full Text
View/download PDF

36. Analysis of virulence factors and in vivo biofilm-forming capacity of Yarrowia lipolytica isolated from patients with fungemia.

Author

Abbes, S., Amouri, I., Trabelsi, H., Neji, S., Sellami, H., Rahmouni, F., Makni, F., Rebai, T., and Ayadi, A.

Abstract

Yarrowia lipolytica is ubiquitous in the environment, opportunistic, and might be considered as one of the causative agents of catheter-related candidemia. Our work aimed to study some virulence factors of Y. lipolytica such as hydrolases production and biofilm formation with comparison to the most frequent Candida specie in human disease. In sum, 58 clinical isolates of Y. lipolytica, 16 C. glabrata, and 12 C. a lbicans were collected from Intensive care unit (ICU). All were tested for enzymatic production and biofilm formation. All tested isolates of C. albicans and C. glabrata were able to degrade casein, and 98.2% of Y. lipolytica showed caseinase activity but no gelatinase activity was detected in all isolates. Y lipolytica strains showed significantly lower (3.4%) in vitro phospholi-pase activity than C. albicans and C. glabrata (P< .05). No significant differences of the hemolytic activity were detected between the three species (P> .05). Concerning biofilm formation, and unlike the results obtained on polystyrene plate, the number of adhered and biofilm cultivable cells obtained by Y lipolytica after 168 hours of catheter subcutaneous implantation is significantly greater and tends to be more compact and structured hyphal layer. Although C. albicans remains the most pathogenic yeast, development of selective ability of Y lipolytica to adhere, to form a biofilm on catheter medical devices, and to produce phospholipase and hemolytic enzyme is of particular interest, and it is strongly recommended to be vigilant in the use of medical implanted medical devices, particularly in ICU. [ABSTRACT FROM AUTHOR]

Published
2017
Full Text
View/download PDF

38. La tournée Alpilles : le plateau de la Caume

Author

Abbes, S., Delaprison, O., Gourc, J., Ritan, C., Billet, J.M., Olivier, J.P., and Service irevues, irevues

Subjects
BIODIVERSITE, PROTECTION DES ESPECES, BOUCHES DU RHONE (13), [SDV.SA.SF] Life Sciences [q-bio]/Agricultural sciences/Silviculture, forestry, ALPILLES (13), FAUNE
Abstract

Comprend les contributions suivantes : - quelques points de repères sur le massif des Alpilles; - la politique de gestion globale du massif des Alpilles et la protection des espèces; - l'aigle de Bonelli sur le site de la Caume.

Published
1997

47. 793 Progressive Familial Intranhepatic Cholestasis with Low Gammaglutamyltransfrasis: Tunisian Experience About 45 Cases

Author

M Hachicha, M Chaabouni, Abbes S, Barkaoui E, A. Maherzi, and A Ayadi

Subjects
Pediatrics, medicine.medical_specialty, Cholestasis, business.industry, Pediatrics, Perinatology and Child Health, medicine, medicine.disease, business
Abstract

793 Progressive Familial Intranhepatic Cholestasis with Low Gammaglutamyltransfrasis: Tunisian Experience About 45 Cases

Published
2010
Full Text
View/download PDF

49. Sickle cell anemia in the Tunisian population: haplotyping and HB F expression

Author

Abbes S, Jean-Philippe Rosa, Fattoum S, Michel Goossens, and Michel Vidaud

Subjects
Adult, Tunisia, Adolescent, Clinical Biochemistry, Anemia, Sickle Cell, Biology, Polymorphism (computer science), Gene cluster, Fetal hemoglobin, medicine, Humans, Child, Genetics (clinical), Fetal Hemoglobin, Genetics, Polymorphism, Genetic, Biochemistry (medical), Haplotype, Infant, Heterozygote advantage, Hematology, Emigration and Immigration, medicine.disease, Sickle cell anemia, Globins, Restriction site, Hemoglobinopathy, Haplotypes, Child, Preschool
Abstract

Thirty-three Tunisian patients, homozygous for Hb S, were examined. Haplotyping using nine restriction sites in the beta-globin gene cluster revealed that the most common type is the Benin type [---- + - + - +] which occurs at a frequency of 0.94% (31 cases); only one patient was homozygous for an atypical haplotype which shows some differences with the Benin haplotype at sites 1, 5, 6, and 8 [+ ---- + + + +]; the two remaining patients were assumed to be double heterozygotes for the Benin and atypical haplotypes. The presence of the atypical haplotype suggested a double origin of the beta S gene in Tunisia. Moreover, a heterogeneity in the Hb F production was observed, ranging between 2 to 16%, whereas the G gamma-globin expression was remarkably homogeneous in our patients with a normal amount approaching 40%. These results suggested the presence of a combination of several control factors.

Published
1991

Catalog

Books, media, physical & digital resources
See catalog results