Nasserullah Z, Al Jame A, Abu Srair H, Al Qatari G, Al Naim S, Al Aqib A, Mokhtar M
Department of Pediatrics, Qatif Central Hospital, Dammam Central Laboratory, Qatif Primary Care Center, King Fahad Hospital, Hofuf.
Ann Saudi Med. 1998 Jul-Aug;18(4):289-92. doi: 10.5144/0256-4947.1998.289.
Screening programs to determine the frequency of sickle cell, glucose-6-phosphate dehydrogenase deficiency and alpha-thalassemia gene are available in Saudi Arabia, although not used frequently. Greater use of these programs will decrease the morbidity and mortality of Saudi children affected by these disorders.
Neonatal hemoglobin electrophoresis and glucose-6-dehydrogenase fluorescent spot tests were performed on newborn babies delivered between December 1992 and December 1993 at the Qatif Central Hospital and at the King Fahad Hospital in Al Hasa. Cord blood samples were collected from babies born in these two hospitals. Babies born in other hospitals had blood collected in their first visit to Qatif primary care centers at the time of vaccination. All specimens were sent to Dammam Central Laboratory. The diagnosis of sickle cell and alpha-thalassemia was based on cellulose acetate electrophoresis and confirmed by agar gel electrophoresis, and glucose-6-phosphate dehydrogenase was confirmed by fluorescent spot test.
A total of 12,220 infants, including 11,313 Saudis (92.6%), were screened over a 12-month period. The common phenotypes detected in these infants included AF, AF Bartâs, SFA, SFA Bartâs, FS and FS Bartâs. In the Saudi infants, homozygous sickle cell disease was detected in 2.35% and 1.08% in Qatif and Al Hasa, respectively. The frequencies of sickle cell gene were 0.1545% and 0.1109% in Qatif and Al Hasa. alphathalassemia gene based on an elevated level of Hb Bartâs were 28% and 16.3% in Qatif and Al Hasa. The screening for G6PD deficiency revealed a high prevalence of 30.6% and 14.7% in Qatif and Al Hasa. In the non-Saudi infants, the frequencies were low.
The outcome of this study indicates that the Saudi populations in Qatif and Al Hasa are at risk for hemoglobinopathies and G6PD. Neonatal screening programs are essential and cost effective and should be maintained as a routine practice.
沙特阿拉伯有筛查镰状细胞、葡萄糖-6-磷酸脱氢酶缺乏症和α地中海贫血基因频率的项目，不过使用频率不高。更多地利用这些项目将降低受这些疾病影响的沙特儿童的发病率和死亡率。
对1992年12月至1993年12月在卡提夫中心医院和哈萨法赫德国王医院出生的新生儿进行了新生儿血红蛋白电泳和葡萄糖-6-脱氢酶荧光斑点试验。从这两家医院出生的婴儿采集脐带血样本。在其他医院出生的婴儿在首次到卡提夫初级保健中心接种疫苗时采集血液样本。所有标本都送到达曼中央实验室。镰状细胞和α地中海贫血的诊断基于醋酸纤维素电泳，并通过琼脂凝胶电泳确认，葡萄糖-6-磷酸脱氢酶通过荧光斑点试验确认。
在12个月的时间里，共筛查了12220名婴儿，其中包括11313名沙特人（92.6%）。在这些婴儿中检测到的常见表型包括AF、AF巴特胎儿水肿综合征、SFA、SFA巴特胎儿水肿综合征、FS和FS巴特胎儿水肿综合征。在沙特婴儿中，卡提夫和哈萨分别有2.35%和1.08%的婴儿被检测出患有纯合镰状细胞病。卡提夫和哈萨的镰状细胞基因频率分别为0.1545%和0.1109%。基于Hb巴特胎儿水肿综合征水平升高的α地中海贫血基因在卡提夫和哈萨分别为28%和16.3%。葡萄糖-6-磷酸脱氢酶缺乏症的筛查显示，卡提夫和哈萨的患病率分别高达30.6%和14.7%。在非沙特婴儿中，这些频率较低。
本研究结果表明，卡提夫和哈萨的沙特人群有患血红蛋白病和葡萄糖-6-磷酸脱氢酶缺乏症的风险。新生儿筛查项目至关重要且具有成本效益，应作为常规做法予以维持。
