Prevention of β-thalassemia major by antenatal screening in Hong Kong

Abstract

The thalassemias are common in Hong Kong. One of the severe forms, β- thalassemia major, has been preventable locally by antenatal screening since 1983. Yet new patients are still being diagnosed. In this retrospective study, 34 children with severe β-thalassemia syndromes were diagnosed in two major public hospitals between 1990 and 1996. They included one pair of identical twins and two pairs of siblings. Twenty-seven (79%) had homozygous β-thalassemia and seven (21%) had β E thalassemia. All but four (12%) were transfusion dependent. Fifty-five (89%) parents had been evaluated for their thalassemia status. Forty-eight had β-thalassemia traits and seven were hemoglobin E carriers. The reasons for the birth of these children with severe β-thalassemia syndromes were (1) late or no antenatal visit (n = 8, 24.2%), including three cross-border deliveries in which the pregnant mothers came from mainland China to Hong Kong for confinement, (2) lack of maternal screening (n = 13, 39.4%), (3) lack of paternal screening (n = 7, 21.2%), (4) parental refusal (n = 3, 9.1%), and (5) unknown (n = 2, 6.1%). These findings suggest that several factors undermine the effectiveness of antenatal screening for prevention of thalassemias. Many medical practitioners and the general public are still not aware of the screening procedures. The migration of population from mainland China to Hong Kong may result in the birth of many more children with β-thalassemia major.