Bone Marrow Transplantation (BMT) and Gene Replacement Therapy (GRT) in Sickle Cell Anemia

ABSTRACT

Background: Sickle cell anemia (SCA) forms one of the neglected tropical disease of genetic aetiology. Unlike many complex genetic diseases inherited on a multiallelic pattern; SCA is a hemoglobinopathy of Mendelian type genetic inheritance. The SCA trait is inherited through a recessive autosomal link; with the homozygotes(SS) manifesting clinical disease; while the heterozygoste(AS) are clinically normal-exept in states of hypoxia or severe infection. Method: Review of relevant literature on bone marrow transplantation and gene replacement therapy in sickle cell anaemia was obtained from texts and Pubmed search. Results: The exact genetic disorder assailing SCA is the production of mutant or abnormal a peptide chains in which the amino acid Glutamine has been substituted with valine. The issuing Haemoglobin polymerizes when deoxygenated;causing constituent RBCs to sickle; haemolyse and block small blood vessels- a clinical state that manifests as haemolytic anemia; aplasia; thrombo-embolic phenomenon; or painful crises. Unfortunately; up to day; there is no cure to SCA; and management only aims at preventing or ameliorating attacks. Conclusion: By virtue of its well defined and localized genetic aetiopathophysiology; and the advances in gene replacement therapy and regenerative medicine; we argue here the case for Bone marrow transplantation (BMT) and Gene replacement therapy (GRT) in sickle cell anemia