Genetic Abnormality May Increase Risk Of Blood Disorders

Source: ScienceDaily (Mar. 17, 2009)

Researchers have found for the first time that a tendency to develop some blood disorders may be inherited. There is a common common genetic sequence abnormality that enhances the likelihood of acquiring a mutation in a gene linked to certain blood diseases.


The investigators carried out a genome-wide study to identify inherited DNA sequence changes that frequently occur in patients with myeloproliferative neoplasms, in which several types of blood cells are excessively produced in the bone marrow. They found that an inherited alteration in the gene for JAK2 – (a protein with enzymatic activity that is linked to the abnormal production of blood cells) – is more common in patients with these disorders.

According to the authors, understanding the underlying inherited sequence partly explains the predisposition for acquiring mutations in certain disease-specific genes and may help explain why some individuals are at higher risk in developing the disease. This is only the beginning to understand how some people may develop these blood disorders and others not.