Sickle cell is a hemoglobin protein defect. This means oxygen cannot be carried throughout the body effectively as iron (heme) has a high oxygen affinity. This is caused by a point mutation in the beta globin chain of hemoglobin, causing the hydrophobic amino acid valine at the 6th position. The beta globin gene is found on the short arm of chromosome 11. Point mutation, or single base modification, is a type of mutation that causes a single nucleotide base substitution/insertion/deletion of DNA or RNA, depending.
