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Previous Volume 336:1298-1301 May 1, 1997 Number 18 Next

Prevalence and Genotypes of - and ß-Thalassemia Carriers in Hong Kong — Implications for Population Screening

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ABSTRACT

Background The thalassemias are common in southern China. We determined the prevalence of heterozygous carriers of these genetic disorders in Hong Kong and assessed the feasibility of a community-based screening program.

Methods An educational and screening program for the thalassemias was carried out in three high schools with a total of 2420 students. Seventy-five percent of the students agreed to undergo screening, which consisted of blood counts, hemoglobin electrophoresis, serum ferritin measurements, and DNA analyses.

Results Of the 1800 blood samples tested, 150 (8.3 percent) had microcytosis (mean corpuscular volume, <80 µm³). Ninety students (5.0 percent) were carriers of -thalassemia, of whom 81 (4.5 percent) were carriers of the Southeast Asian type of deletion, in which both -globin genes on the same chromosome 16 are deleted. Sixty-one students (3.4 percent) were carriers of either -thalassemia or the mutation coding for hemoglobin E. Six students were carriers of both - and -thalassemias. On the basis of these figures, the estimated numbers of pregnancies in Hong Kong in which the fetus is at risk for homozygous -thalassemia and -thalassemia major or intermedia are 145 and 80 per year, respectively. In Hong Kong the actual numbers of women referred for prenatal diagnoses of these disorders are approximately 95 and 40 per year, respectively.

Conclusions Despite the availability of hospital-based screening and prenatal diagnosis for many years in Hong Kong, many women carrying fetuses at risk for thalassemia are not referred for genetic counseling. A community-based program of education, screening, and counseling is needed in Hong Kong and southern China.

Source Information

From the Departments of Pediatrics (Y.-L.L., S.-Y.H., C.-Y.Y.) and Pathology (L.-C.C., Y.-Y.A.C.), University of Hong Kong and Queen Mary Hospital, Hong Kong; and the Provincial Hemoglobinopathy DNA Diagnostic Laboratory and Department of Pathology, McMaster University School of Medicine, Hamilton, Ont., Canada (J.S.W., D.H.K.C.).

Address reprint requests to Dr. Chui at McMaster University Medical Center (Rm. 2N31), 1200 Main St. W., Hamilton, ON L8N 3Z5, Canada; or to Dr. Lau at the Department of Pediatrics, University of Hong Kong, Queen Mary Hospital, Pokfulam Rd., Hong Kong.

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