Lee A C, Ha S Y, Wong K W, Cheng M Y, Ip P, Chan G C, Lau Y L, So K T
Department of Paediatrics, Tuen Mun Hospital, New Territories, Hong Kong.
Pediatr Hematol Oncol. 1998 May-Jun;15(3):249-54. doi: 10.3109/08880019809028792.
The thalassemias are common in Hong Kong. One of the severe forms, beta-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 beta-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 beta-thalassemia and seven (21%) had beta E thalassemia. All but four (12%) were transfusion dependent. Fifty-five (89%) parents had been evaluated for their thalassemia status. Forty-eight had beta-thalassemia traits and seven were hemoglobin E carriers. The reasons for the birth of these children with severe beta-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 beta-thalassemia major.
地中海贫血症在香港很常见。自1983年以来，严重型之一的重型β地中海贫血症在本地可通过产前筛查预防。然而，仍有新患者被诊断出来。在这项回顾性研究中，1990年至1996年间，两所主要公立医院诊断出34例患有严重β地中海贫血综合征的儿童。其中包括一对同卵双胞胎和两对兄弟姐妹。27例（79%）患有纯合子β地中海贫血，7例（21%）患有βE地中海贫血。除4例（12%）外，所有患者都依赖输血。55例（89%）父母接受了地中海贫血症状态评估。48例有β地中海贫血特征，7例是血红蛋白E携带者。这些患有严重β地中海贫血综合征儿童出生的原因如下：（1）产前检查晚或未进行产前检查（n = 8，24.2%），包括3例跨境分娩，即怀孕母亲从中国大陆来香港分娩；（2）缺乏母亲筛查（n = 13，39.4%）；（3）缺乏父亲筛查（n = 7，21.2%）；（4）父母拒绝（n = 3，9.1%）；（5）原因不明（n = 2，6.1%）。这些发现表明，有几个因素会削弱产前筛查预防地中海贫血症的有效性。许多医生和公众仍然不了解筛查程序。从中国大陆向香港的人口迁移可能导致更多重型β地中海贫血症儿童出生。
