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Drépanocytose et complications aiguës

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Maladies rares en médecine d’urgence

Part of the book series: Références en médecine d’urgence. Collection de la SFMU ((REFERMED))

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Résumé

La drépanocytose est la plus fréquente des hémoglobinopathies. D’origine génétique, elle est due à une mutation sur le chromosome 11 du gène de la β-globine. Cette variation autosomique récessive est à l’origine de la synthèse d’une hémoglobine anormale, l’hémoglobine S (HbS). Cette dernière présente des caractéristiques rhéologiques particulières aboutissant, dans certaines conditions, à la falciformation (déformation en faucille des hématies) et à la vaso-occlusion in situ, responsable de complications à court, moyen et long termes. L’hémoglobine C résulte de la mutation du gène β-globine (remplacement de l’acide aminé n∘ 6 glutamique par la lysine, en même position que la mutation drépanocytaire). Les formes génétiques principales sont les suivantes: sujets homozygote S/S, hétérozygote S/C, hétérozygote composite S/β ° ou S/β + thalassémies (β° pour un déficit total de synthèse des chaînes de β-globine et β+ pour un déficit partiel). Les patients hétérozygotes de type AS sont des porteurs sains, ne présentant pas de fait de manifestation pathologique liée à ce trait.

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Authors and Affiliations

  1. Service d’urgences, CHU Broca-Cochin-Hôtel-Dieu, 27, rue du Faubourg Saint Jacques, AP-HP, 75014, PARIS, France

    A. Santin

  2. Université Paris Descartes, 75005, Paris, France

    B. Renaud

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  1. A. Santin
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  2. B. Renaud
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Correspondence to A. Santin .

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Santin, A., Renaud, B. (2013). Drépanocytose et complications aiguës. In: Maladies rares en médecine d’urgence. Références en médecine d’urgence. Collection de la SFMU. Springer, Paris. https://doi.org/10.1007/978-2-8178-0350-0_17

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  • DOI: https://doi.org/10.1007/978-2-8178-0350-0_17

  • Publisher Name: Springer, Paris

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