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Hemoglobin
international journal for hemoglobin research
Volume 41, 2017 - Issue 2
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Original Article

Genetic Background of the Sickle Cell Disease Pediatric Population of Dakar, Senegal, and Characterization of a Novel Frameshift β-Thalassemia Mutation [HBB: c.265_266del; p.Leu89Glufs*2]

Fatou Gueye TallLaboratoire de Biochimie Pharmaceutique-FMPO, Université Cheikh Anta Diop, Dakar, Sénégal; ;Laboratoire Interuniversitaire de Biologie de la Motricité (LIBM) EA7424, Equipe ‘Biologie Vasculaire et du Globule Rouge,’ Université Claude Bernard Lyon 1, COMUE Lyon, France; ;Centre Hospitalier National d’Enfants Albert-Royer, Dakar, Sénégal;
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Cyril MartinLaboratoire Interuniversitaire de Biologie de la Motricité (LIBM) EA7424, Equipe ‘Biologie Vasculaire et du Globule Rouge,’ Université Claude Bernard Lyon 1, COMUE Lyon, France; ;Laboratoire d’Excellence sur le Globule Rouge (Labex GR-Ex), Paris, France;
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El Hadji Malick NdourLaboratoire de Biochimie Pharmaceutique-FMPO, Université Cheikh Anta Diop, Dakar, Sénégal; ;Centre Hospitalier National d’Enfants Albert-Royer, Dakar, Sénégal;
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Indou Déme LyCentre Hospitalier National d’Enfants Albert-Royer, Dakar, Sénégal; ;Service Universitaire de Pédiatrie-FMPO, Université Cheikh Anta Diop, Dakar, Sénégal;
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Céline RenouxUF Pathologie Moléculaire du Globule Rouge, Laboratoire de Biochimie et Biologie Moléculaire Grand-Est, Hôpital Edouard Herriot, Hospices Civils de Lyon, Lyon, France; ;Laboratoire Interuniversitaire de Biologie de la Motricité (LIBM) EA7424, Equipe ‘Biologie Vasculaire et du Globule Rouge,’ Université Claude Bernard Lyon 1, COMUE Lyon, France;
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Louis ChillottiUF Pathologie Moléculaire du Globule Rouge, Laboratoire de Biochimie et Biologie Moléculaire Grand-Est, Hôpital Edouard Herriot, Hospices Civils de Lyon, Lyon, France;
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Nicolas VeyrencheUF Pathologie Moléculaire du Globule Rouge, Laboratoire de Biochimie et Biologie Moléculaire Grand-Est, Hôpital Edouard Herriot, Hospices Civils de Lyon, Lyon, France;
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Philippe ConnesLaboratoire Interuniversitaire de Biologie de la Motricité (LIBM) EA7424, Equipe ‘Biologie Vasculaire et du Globule Rouge,’ Université Claude Bernard Lyon 1, COMUE Lyon, France; ;Laboratoire d’Excellence sur le Globule Rouge (Labex GR-Ex), Paris, France; ;Institut Universitaire de France, Paris, France
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Papa Madieye GueyeLaboratoire de Biochimie Pharmaceutique-FMPO, Université Cheikh Anta Diop, Dakar, Sénégal;
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Rokhaya Ndiaye DialloLaboratoire de Biochimie Pharmaceutique-FMPO, Université Cheikh Anta Diop, Dakar, Sénégal;
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Philippe LacanUF Pathologie Moléculaire du Globule Rouge, Laboratoire de Biochimie et Biologie Moléculaire Grand-Est, Hôpital Edouard Herriot, Hospices Civils de Lyon, Lyon, France;
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Ibrahima DiagneService Universitaire de Pédiatrie-FMPO, Université Cheikh Anta Diop, Dakar, Sénégal; ;UFR des Sciences de la Santé, Université Gaston Berger, Saint-Louis, Sénégal;
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Pape Amadou DiopLaboratoire de Biochimie Pharmaceutique-FMPO, Université Cheikh Anta Diop, Dakar, Sénégal;
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Aynina CisséLaboratoire de Biochimie Pharmaceutique-FMPO, Université Cheikh Anta Diop, Dakar, Sénégal;
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Philomène Lopez SallLaboratoire de Biochimie Pharmaceutique-FMPO, Université Cheikh Anta Diop, Dakar, Sénégal; ;Centre Hospitalier National d’Enfants Albert-Royer, Dakar, Sénégal;
&
Philippe JolyUF Pathologie Moléculaire du Globule Rouge, Laboratoire de Biochimie et Biologie Moléculaire Grand-Est, Hôpital Edouard Herriot, Hospices Civils de Lyon, Lyon, France; ;Laboratoire Interuniversitaire de Biologie de la Motricité (LIBM) EA7424, Equipe ‘Biologie Vasculaire et du Globule Rouge,’ Université Claude Bernard Lyon 1, COMUE Lyon, France; ;Laboratoire d’Excellence sur le Globule Rouge (Labex GR-Ex), Paris, France; Correspondence[email protected]
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Pages 89-95 | Received 31 Jan 2017, Accepted 11 May 2017, Published online: 03 Jul 2017

Citations (14)

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Wissem Abdaoui, Djamel Eddine Benouareth, Amel Djenouni, Celine Renoux, Fatiha Grifi, Adel Gouri, Fateh Athamnia, Manel Benalioua & Philippe Joly. (2019) Genetic Background of β-Thalassemia in Northeast Algeria with Assessment of the Thalassemia Severity Score and Description of a new β0-Thalassemia Frameshift Mutation (HBB: c.374dup; p.Pro126Thrfs*15) . Hemoglobin 43:4-5, pages 223-228.
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