Thalassemia heterozygotes in Hawaii: ethnic attitudes toward screening and prenatal diagnosis

The attitudes toward screening and prenatal diagnosis for the hemoglobinopathies Hb E and alpha-thalassemia, prevalent in Southeast Asia, it were studied in Southeast Asians living in Hawaii. Since May 1985, one Laotian and two Filipino Outreach Workers were trained to make home visits to educate and recruit prospective subjects for a federally-funded thalassemia screening project. Volunteers over age 18 were interviewed to assess their comprehension about thalassemia and their attitudes toward screening, family planning, and prenatal diagnosis using structured questionnaires to measure subjective responses. Prenatal diagnosis was explained to all subjects using simple brochures in Laotian and in three Filipino dialects. Culturally oriented genetic counceling was offered to all heterozygotes, emphasizing that their status was common and benign. By July 1987, 597 adult participants had been interviewed; 262 were male, 335 female (65 pregnant); 250 were Laotian, 221 Filipino, 90 Chinese, and 36 of other races. Among female interviewees, 268 said they would want prenatal diagnosis and 196 said they would abort an affected fetus. Most interviewees, especially those who were pregnant, were in favor of: 1) public education about screening, 2) having relatives tested, and 3) prenatal diagnosis when indicated. These attitudes seemed to be influenced by Western culture and religious constraints. Comprehension of genetic concepts correlated closely with education. Ten pregnancies occurred in 16 couples where both partners were heterozygous for a thalassemia (thal) (at least two non-referred couples had homozygous alpha-thal-1 fetuses during this time). Five had amniocentesis for risk of alpha-thal homozygosity, two for risk of beta-thal homozygosity, two miscarried, and one was referred too late for fetal testing. After amniocentesis, one couple declined termination for a fetus with Hb E/beta-thal, and was sceptical of the results when their infant seemed normal at birth; one couple kept a homozygous beta-thal fetus, possibly modified by alpha-gene deletions.