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It is inherited in an autosomal co dominant manner. Sickle cell disease is caused by point mutation in the beta-Globin gene on chromosome 11, causing replacement of glutamic acid by valine at the sixth position of beta globin chain of Hb The altered amino acid content in beta-globin chain promotes the non-covalent polymerization (aggregation) of haemoglobin causing red blood cells to become sickle shaped and this decreases the elasticity of RBCs which is more pronounced during conditions of decreased oxygenation or higher oxygen demand as at higher altitude, infections, exercises and during surgery.…mehr

Produktbeschreibung
It is inherited in an autosomal co dominant manner. Sickle cell disease is caused by point mutation in the beta-Globin gene on chromosome 11, causing replacement of glutamic acid by valine at the sixth position of beta globin chain of Hb The altered amino acid content in beta-globin chain promotes the non-covalent polymerization (aggregation) of haemoglobin causing red blood cells to become sickle shaped and this decreases the elasticity of RBCs which is more pronounced during conditions of decreased oxygenation or higher oxygen demand as at higher altitude, infections, exercises and during surgery.
Autorenporträt
Dra. Eman Refaat Youness, doctora en Bioquímica Médica, Facultad de Medicina, Universidad de El Cairo, profesora adjunta de Bioquímica Médica, Centro Nacional de Investigación, Egipto, con experiencia en diseño experimental, investigaciones clínicas, numerosas publicaciones internacionales, miembro de sociedades internacionales, revisora y editora de numerosas revistas.