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Genetic Counseling of Asymptomatic Carriers in a Primary Care Setting: The Effectiveness of Screening and Counseling for Beta-Thalassemia Trait

[+] Article and Author Information

Grant support: in part by grant R01-HL-17465 from the National Institutes of Health; New York State Health Research Council Grants 146 and 664; and the Rockefeller Foundation.

▸Requests for reprints should be addressed to Mack Lipkin, Jr., M.D.; Department of Medicine, NYU Medical Center, 550 First Avenue; New York, NY 10016.

Rochester and New York, New York; and Fresno, California

© 1986 American College of PhysiciansAmerican College of Physicians

Ann Intern Med. 1986;105(1):115-123. doi:10.7326/0003-4819-105-1-115
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In a prospective, controlled, stratified, experimental effectiveness study of screening and counseling, 25 000 consecutive adults were screened for thalassemia trait. Eight hundred forty-three adults had a mean corpuscular volume less than 77 fL; 192 (22% of those with microcytosis) had hemoglobin A2 greater than 3.5%, proving beta-thalassemia trait. Video-program, neutral-educational, and patient-centered counseling methods produced equal levels of learning, retention, psychologic impact, and effects on life adjustment immediately and at 2 and 10 months after counseling. Ninety-nine percent of the patients told other persons about the counseling, and 43% had 106 others screened. Factors related to having someone else screened included plans to have children (p < 0.002), being younger (p < 0.0025), better education (p < 0.05), and having high knowledge of thalassemia (p = 0.05). For maximum effectiveness, screening and counseling programs should focus on patients for whom a positive result has high significance.





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