We're unable to sign you in at this time. Please try again in a few minutes.
We were able to sign you in, but your subscription(s) could not be found. Please try again in a few minutes.
There may be a problem with your account. Please contact the AMA Service Center to resolve this issue.
Contact the AMA Service Center:
Telephone: 1 (800) 262-2350 or 1 (312) 670-7827  *   Email: subscriptions@jamanetwork.com
Error Message ......
Editorial |

Carrier Screening for Gaucher Disease More Harm Than Good?

Ernest Beutler, MD
JAMA. 2007;298(11):1329-1331. doi:10.1001/jama.298.11.1329.
Text Size: A A A
Published online


It was a warm summer day more than 30 years ago when my laboratory assistant and collaborator, Wanda Kuhl, showed me some unusual results. Our laboratory had devised a facile method for measuring white blood cell glucocerebrosidase activity and was performing family studies to determine the efficiency of this technique for the detection of heterozygotes for Gaucher disease. But here was a sample from an obligate heterozygote, the mother of a patient with Gaucher disease, in which the range of enzyme activity was as low as in the patient. Bone marrow examination in this 72-year-old asymptomatic parent confirmed that she also had Gaucher disease.1 Discovery of Gaucher disease in an older, asymptomatic individual was by no means unique—the disease had previously been detected in such persons, including one person who was aged 86 years.2 However, many persons homozygous for the N370S mutation associated with Gaucher disease are never diagnosed; based on the discrepancy between the heterozygote frequency and the number of patients diagnosed, an estimated 60% of such homozygous patients may go undiagnosed.3

Sign in

Purchase Options

• Buy this article
• Subscribe to the journal
• Rent this article ?

First Page Preview

View Large
First page PDF preview




Also Meets CME requirements for:
Browse CME for all U.S. States
Accreditation Information
The American Medical Association is accredited by the Accreditation Council for Continuing Medical Education to provide continuing medical education for physicians. The AMA designates this journal-based CME activity for a maximum of 1 AMA PRA Category 1 CreditTM per course. Physicians should claim only the credit commensurate with the extent of their participation in the activity. Physicians who complete the CME course and score at least 80% correct on the quiz are eligible for AMA PRA Category 1 CreditTM.
Note: You must get at least of the answers correct to pass this quiz.
Please click the checkbox indicating that you have read the full article in order to submit your answers.
Your answers have been saved for later.
You have not filled in all the answers to complete this quiz
The following questions were not answered:
Sorry, you have unsuccessfully completed this CME quiz with a score of
The following questions were not answered correctly:
Commitment to Change (optional):
Indicate what change(s) you will implement in your practice, if any, based on this CME course.
Your quiz results:
The filled radio buttons indicate your responses. The preferred responses are highlighted
For CME Course: A Proposed Model for Initial Assessment and Management of Acute Heart Failure Syndromes
Indicate what changes(s) you will implement in your practice, if any, based on this CME course.


Some tools below are only available to our subscribers or users with an online account.

9 Citations

Sign in

Purchase Options

• Buy this article
• Subscribe to the journal
• Rent this article ?

Related Content

Customize your page view by dragging & repositioning the boxes below.

See Also...
Articles Related By Topic
Related Collections
PubMed Articles