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It is inherited in an autosomal co dominant manner. Sickle cell disease is caused by point mutation in the β-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 β-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.
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