Molecular Disease- Sickle cell anaemia
Sickle cell anaemia is a disease prevalent in parts of Africa and India where malaria is also endemic. The red cells of the patient have a pronounced morphological change and resemble the shape of a farmer’s sickle and thus the name of the disease. Because these unusually shaped red cells have impaired oxygen carrying capacity and further get stuck in the small capillaries they lead to the anaemic conditions observed in patients. Interestingly such sickled RBCs resist malarial infection and hence offer some selection unfortunately for malaria to be co-prevalent with sickle cell anaemia. One of the first attempts to study the molecular basis of sickle cell anaemia was to compare the electrophoretic mobility of normal (Hb) and sickle cell haemoglobin (scHb). On finding that Hb moved faster than scHb, Linus Pauling predicted that the latter differed in a charged amino acid. This was confirmed by V. M. Ingram in 1957 who pioneered a useful technique called protein finger printing in the famous Laboratory of Molecular Biology (LMB) at Cambridge, UK. LMB has been the Mecca for protein sequencing, DNA sequencing, X-ray crystallography, deduction of the Double helix structure of DNA, Hybridoma technology and Nematode developmental studies. Established in 1952 under the leadership of Max Perutz (Received Nobel Prize for the structure of Haemoglobin) this institution has produced 9 Nobel Prize winners.