alpha-Thalassaemia in Tunisia: some epidemiological and molecular data.

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dc.contributor.authorSiala, Hen_US
dc.contributor.authorOuali, Fen_US
dc.contributor.authorMessaoud, Ten_US
dc.contributor.authorBibi, Aen_US
dc.contributor.authorFattoum, Sen_US
dc.date.accessioned2008-12-17en_US
dc.date.accessioned2009-06-02T07:31:59Z
dc.date.available2008-12-17en_US
dc.date.available2009-06-02T07:31:59Z
dc.date.issued2008-12-17en_US
dc.description.abstractUnlike the other haemoglobinopathies, few researches have been published concerning alpha-thalassaemia in Tunisia. The aim of the present work is to acquire further data concerning alpha-thalassaemia prevalence and molecular defects spectrum in Tunisia, by collecting and studying several kinds of samples carrying alpha-thalassaemia. The first survey conducted on 529 cord blood samples using cellulose acetate electrophoresis, have displayed the prevalence of 7.38% Hb Bart's carriers at birth. Molecular analyses were conducted by PCR and DNA sequencing on 20 families' cases from the above survey carrying the Hb Bart's at birth and on 10 Hb H diseased patients. The results showed six alpha-globin gene molecular defects and were responsible for alpha-thalassaemia: -alpha(3.7), - -(MedI), alpha(TSaudi), alpha(2)(cd23GAG->Stop), Hb Greone Hart: alpha(1)(119CCT->TCT) corresponding to 11 genotypes out of which two are responsible for Hb H disease (- -(Med)/-alpha(3.7)) and (alpha(TSaudi)alpha/alpha(TSaudi)alpha) and a newly described polymorphism: alpha+6C->G. The geographical repartition of alpha-thal carriers showed that the -alpha3.7 deletion is distributed all over the country, respectively the alpha(HphI) and alpha(TSaudi) seem to be more frequent in the central region of the northeast region. The haematological and clinical data showed a moderate phenotype with a late age of diagnosis for Hb H disease. This work had permitted, in addition to an overview on alpha-thalassaemia in the country, the optimization of protocols for alpha-thalassaemia detection in our lab, allowing further investigations concerning phenotype-genotype correlation in sickle cell disease or beta-thalassaemia.en_US
dc.description.affiliationService de Biochimie Clinique, Hôpital d'Enfants de Tunis, Bab Saadoun 1007 Tunis, Tunisie. hajer.siala@rns.tnen_US
dc.identifier.citationSiala H, Ouali F, Messaoud T, Bibi A, Fattoum S. alpha-Thalassaemia in Tunisia: some epidemiological and molecular data. Journal of Genetics. 2008 Dec; 87(3): 229-34en_US
dc.identifier.urihttps://imsear.searo.who.int/handle/123456789/114523
dc.language.isoengen_US
dc.source.urihttps://www.ias.ac.in/jgenet/index.htmlen_US
dc.subject.meshAdolescenten_US
dc.subject.meshAdulten_US
dc.subject.meshChilden_US
dc.subject.meshChild, Preschoolen_US
dc.subject.meshFemaleen_US
dc.subject.meshGenotypeen_US
dc.subject.meshHemoglobin H --geneticsen_US
dc.subject.meshHumansen_US
dc.subject.meshIron --metabolismen_US
dc.subject.meshMaleen_US
dc.subject.meshMutation --geneticsen_US
dc.subject.meshTunisia --epidemiologyen_US
dc.subject.meshalpha-Thalassemia --epidemiologyen_US
dc.titlealpha-Thalassaemia in Tunisia: some epidemiological and molecular data.en_US
dc.typeJournal Articleen_US
dc.typeResearch Support, Non-U.S. Gov'ten_US
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