Bone marrow transplantation (BMT) and gene replacement therapy (GRT) in sickle cell anemia.
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.


METHODS
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 beta 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.


CONCLUSIONS
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.
Misaki
W
W
Makerere University Faculty of Medicine, Kamala, Uganda. wmisaki@yahoo.com
D000755:Anemia, Sickle Cell / Q000235:genetics / Q000503:physiopathology / Q000628:therapy*; D000986:Antisickling Agents; D016026:Bone Marrow Transplantation; D015316:Genetic Therapy; D006801:Humans; D044968:Regenerative Medicine
D000986:Antisickling Agents