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Prevalence and genotypes of alpha- and beta-thalassemia carriers in Hong Kong -- implications for population screening.
N Engl J Med. 1997 May 01; 336(18):1298-301.NEJM

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 microm3). Ninety students (5.0 percent) were carriers of alpha-thalassemia, of whom 81 (4.5 percent) were carriers of the Southeast Asian type of deletion, in which both alpha-globin genes on the same chromosome 16 are deleted. Sixty-one students (3.4 percent) were carriers of either beta-thalassemia or the mutation coding for hemoglobin E. Six students were carriers of both alpha- and beta-thalassemias. On the basis of these figures, the estimated numbers of pregnancies in Hong Kong in which the fetus is at risk for homozygous alpha-thalassemia and beta-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.

Authors+Show Affiliations

Department of Pediatrics, University of Hong Kong and Queen Mary Hospital.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

9113933

Citation

Lau, Y L., et al. "Prevalence and Genotypes of Alpha- and Beta-thalassemia Carriers in Hong Kong -- Implications for Population Screening." The New England Journal of Medicine, vol. 336, no. 18, 1997, pp. 1298-301.
Lau YL, Chan LC, Chan YY, et al. Prevalence and genotypes of alpha- and beta-thalassemia carriers in Hong Kong -- implications for population screening. N Engl J Med. 1997;336(18):1298-301.
Lau, Y. L., Chan, L. C., Chan, Y. Y., Ha, S. Y., Yeung, C. Y., Waye, J. S., & Chui, D. H. (1997). Prevalence and genotypes of alpha- and beta-thalassemia carriers in Hong Kong -- implications for population screening. The New England Journal of Medicine, 336(18), 1298-301.
Lau YL, et al. Prevalence and Genotypes of Alpha- and Beta-thalassemia Carriers in Hong Kong -- Implications for Population Screening. N Engl J Med. 1997 May 1;336(18):1298-301. PubMed PMID: 9113933.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Prevalence and genotypes of alpha- and beta-thalassemia carriers in Hong Kong -- implications for population screening. AU - Lau,Y L, AU - Chan,L C, AU - Chan,Y Y, AU - Ha,S Y, AU - Yeung,C Y, AU - Waye,J S, AU - Chui,D H, PY - 1997/5/1/pubmed PY - 1997/5/1/medline PY - 1997/5/1/entrez SP - 1298 EP - 301 JF - The New England journal of medicine JO - N. Engl. J. Med. VL - 336 IS - 18 N2 - 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 microm3). Ninety students (5.0 percent) were carriers of alpha-thalassemia, of whom 81 (4.5 percent) were carriers of the Southeast Asian type of deletion, in which both alpha-globin genes on the same chromosome 16 are deleted. Sixty-one students (3.4 percent) were carriers of either beta-thalassemia or the mutation coding for hemoglobin E. Six students were carriers of both alpha- and beta-thalassemias. On the basis of these figures, the estimated numbers of pregnancies in Hong Kong in which the fetus is at risk for homozygous alpha-thalassemia and beta-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. SN - 0028-4793 UR - https://www.unboundmedicine.com/medline/citation/9113933/Prevalence_and_genotypes_of_alpha__and_beta_thalassemia_carriers_in_Hong_Kong____implications_for_population_screening_ L2 - http://www.nejm.org/doi/full/10.1056/NEJM199705013361805?url_ver=Z39.88-2003&amp;rfr_id=ori:rid:crossref.org&amp;rfr_dat=cr_pub=pubmed DB - PRIME DP - Unbound Medicine ER -