SICKLE CELL ANAEMIA(point mutation)
SICKLE CELL ANAEMIA(A GENETIC DISORDER) GENETIC BASIS Source of figure : PBworks HBB gene is responsible for production of HBB protein → present on chromosome no.11 πon the short arm at 15.5 position at π globin locus as shown in figure. mutation in this gene loci results in defective protein formation. π± globin gene codes for π± globin chain of the hemoglobin . Due, to defective π± gene defective π± globin chain is formed causing SICKLE CELL ANAEMIA(HBS) This mutation results in sickle shaped structure of the RBCs and hence the name πSICKLE CELL ANAEMIA..... MOLECULAR BASIS IN NORMAL HAEMOGLOBIN, ...