Sickle cell disease is due to
(Point mutation) (628-R) (227-426-Basicpathology> 8th)Sickle cell disease is an important hereditary hemoglobinopathy, a type of disease characterized by production of defective hemoglobins.Sickle cell disease is caused by a point mutation at the sixth position of the b-globin chain leading to the substitution of a valine residue for a glutamic acid residue.Sickle syndromes occurs in 3 different forms (394-HM 5th)1. As heterozygous state for HbS: Sickle cell trait (AS)2. As homozygous state for HbS: Sickle cell anaemia (SS)3. As double heterozygous states eg. Sickle p-thalassaemia Sickle-C-disease, sickle-D disease (SD)Frame-shift mutation - occurs when there is insertion or deletion of one or two base pairs in the DNA sequence eg. Cystic fibrosis
Point mutation
From shift mutation
Nucleotide receptor blockage
Non sequence mutation
Blood