Beta globin missense gene mutation seen in?
- Point mutation (missense) in 6th codon of b-globin gene leading to replacement of glutamic acid by valine residue is seen in sickle cell anemia OTHER OPTIONS: - Common mutations of Beta Thalassemia in India: IVS 1-5 G - C IVS 1-1 G - T Codon 41/42 Codon 819 619 bp deletion - Hb Ba: Most severe form of alpha thalassemia, results from the loss of all four alpha-globin alleles. - HbH: D/t loss of three of four alpha-globin alleles.
Thalassemia
Sickle cell anemia
Hb Ba
HbH
Hemolytic anemia