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Single gene analysis for diagnosis of a range of blood disorders

A single mutation that causes a number of blood disorders ahs been found out .This may lead to a more accurate diagnosis//, according to a new study.

Researchers were able to develop a diagnostic test, which could pinpoint a gene mutation found in most patients with myeloproliferative blood disorders. These disorders are characterized by an overproduction of blood cells and can cause hemorrhage or acute myeloid leukemia.

A gene called JAK2 was analyzed in a group of 140 patients suffering from a range of myeloproliferative blood disorders and the results were compared with a control group. A single-point mutation of the gene was identified in 97 percent of patients with polycyhthemia vera, in 57 percent of patients with essential thrombocythaemia, and in 50 percent of those with idiopathic myelofibrosis. None of the patients in the control had the mutation.
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