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Compound heterozygosity for Hb C/Hb S (HBB: c.19G>A/HBB: c.20A>T) diseases observed in a Syrian family: a case report

Hemoglobin S and Hemoglobin C disease is a type of sickle cell disease caused by two mutations at codon 6 of β-globin gene. These mutations cause changes in the shape of the red blood cells. Little is known about its presence in our region. CASE PRESENTATION: The authors describe a case of a Syrian...

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Detalles Bibliográficos
Autores principales: Moassas, Faten, Daboul, Amir, Assád, Manar, Murad, Hossam
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Lippincott Williams & Wilkins 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10129135/
https://www.ncbi.nlm.nih.gov/pubmed/37113902
http://dx.doi.org/10.1097/MS9.0000000000000386