Like all genes,
the haemoglobin gene contains DNA sequences that seem to have no function.
But when a faulty
haemoglobin gene is expressed, the splicing cuts are made in the wrong places.
Not exact matches
Before
gene therapy he needed monthly blood transfusions to provide him with beta - globin, a key component of the
haemoglobin molecule that carries oxygen around the body.
In 1978 Alec Jeffreys, a molecular biologist working at the University of Leicester, noticed that the DNA around a
gene encoding part of the
haemoglobin protein, varied between individuals much more than anyone expected.
Thalassaemia is the world's most common genetic disease and is caused by mutations in one or both of the
genes that code for
haemoglobin.
Kole's work focused on tricking the red blood cell manufacturing machinery of thalassaemic patients into producing normal
haemoglobin from their mutated
genes.
Mutations affecting adult
haemoglobin production are among the most common of all genetic variations, with about 5 per cent of the world's population carrying a defective
gene.
But to work, to build proteins or whatever else it does, the DNA requires the rest of the metabolic apparatus of the cell — or of the whole blood - forming system in the case of
genes involved in the synthesis of
haemoglobin.
A fault in the
gene that codes for the b -
haemoglobin protein produces defective
haemoglobin that can not adequately carry oxygen round the body.
Alpha -
haemoglobin stabilising protein is a quantitative trait
gene that modifies the phenotype of beta - thalassaemia.