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 Blood, 15 July 2006, Vol. 108, No. 2, pp. 734-736.
Prepublished online as a Blood First Edition Paper on March 16, 2006; DOI 10.1182/blood-2006-01-0256.

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RED CELLS
Brief report

The mutation rate in PIG-A is normal in patients with paroxysmal nocturnal hemoglobinuria (PNH)

David J. Araten, and Lucio Luzzatto

From the Division of Hematology, New York University School of Medicine and the New York Veterans Administration Medical Center, New York; and Istituto Tuscano Tumori, Firenze, Italy.

Paroxysmal nocturnal hemoglobinuria (PNH) is characterized by the presence in the patient's hematopoietic system of a large cell population with a mutation in the X-linked PIG-A gene. Although this abnormal cell population is often found to be monoclonal, it is not unusual that 2 or even several PIG-A mutant clones coexist in the same patient. Therefore, it has been suggested that the PIG-A gene may be hypermutable in PNH. By a method we have recently developed for measuring the intrinsic rate of somatic mutations (µ) in humans, in which PIG-A itself is used as a sentinel gene, we have found that in 5 patients with PNH, µ ranged from 1.24 x 10–7 to 11.2 x 10–7, against a normal range of 2.4 x 10–7 to 29.6 x 10–7 mutations per cell division. We conclude that genetic instability of the PIG-A gene is not a factor in the pathogenesis of PNH.


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