Nasserullah Zaki, Alshammari Ali, Abbas Marriam Al, Abu-Khamseen Yousef, Qadri Mohamed, Jafer Souad Al, Wabel Manal Al
Qatif Central Hospital, Qatif, Saudi Arabia and Dammam Maternity and Children Hospital, Dammam, Saudi Arabia.
Ann Saudi Med. 2003 Nov-Dec;23(6):354-7. doi: 10.5144/0256-4947.2003.354.
Newborn screening for sickle cell disease, other hemoglobinopathies and G6PD deficiency is one of the most important means of decreasing mortality and morbidity in high prevalence areas. Nine years experience in newborn screening in Qatif Central Hospital are summarized.
All newborns in Qatif Central Hospital had cord blood screening for sickle cell disease, other hemoglobinopathies and G6PD deficiency using alkaline and electrophoresis, agar gel electrophoresis for sickle cell disease and fluorescent screening technique for G6PD deficiency. Families of infants with minor hemoglobinopathies and G6PD deficiency were informed about the results in the well baby clinic.
From December 1992 to December 2001, 24 012 newborn were screened. 21 858 (91.03%) were Saudi and 2154 (8.97%) were non-Saudi. In the Saudi hemoglobin electrophoresis patterns, AF (normal) was found in 49.52%, hemoglobin FS (sickle cell disease) + FS Bart s (sickle cell disease with alpha thalassemia) in 2.57%, hemoglobin AFS (sickle cell trait) + AFS Bart s (sickle cell trait with alpha thalassemia) in 21.14%, and alpha thalassemia (based on elevated Bart s hemoglobin > or = 2%) in 35.68%. G6PD deficiency was found in 37.02% and 21.27% in males and females, respectively. Of 563 Saudi newborn with a presumptive diagnosis of sickle cell disease, 48 (8.5%) did not come to the hematology clinic or were not contactable. The diagnosis of sickle cell anemia or sickle thalassemia was confirmed in 513 patients, and 2 cases were found to have sickle cell trait on repeat testing. Many parents found it hard to accept the initial diagnosis and the resulting impact on their relationship with one another.
Prevention and early identification of sickle cell disease, other major hemoglobinopathies and G6PD deficiency remains the cornerstone of management of these diseases. The main barriers to successful neonatal screening for hemoglobinopathies are the level of the education and deficiency in manpower. We recommend including newborn screening for hemoglobinopathies and G6PD deficiency in the national hypothyroidism screening program in the eastern province and the establishment of a special center for hemoglobinopathies with a high standard of medical care in Qatif.
对镰状细胞病、其他血红蛋白病和葡萄糖-6-磷酸脱氢酶（G6PD）缺乏症进行新生儿筛查是降低高流行地区死亡率和发病率的最重要手段之一。本文总结了卡提夫中心医院9年的新生儿筛查经验。
卡提夫中心医院的所有新生儿均采用碱性和电泳法、镰状细胞病的琼脂凝胶电泳法以及G6PD缺乏症的荧光筛查技术，对脐带血进行镰状细胞病、其他血红蛋白病和G6PD缺乏症的筛查。患有轻度血红蛋白病和G6PD缺乏症婴儿的家庭在健康婴儿诊所被告知检测结果。
1992年12月至2001年12月，共筛查了24012名新生儿。其中沙特人21858名（91.03%），非沙特人2154名（8.97%）。在沙特人的血红蛋白电泳图谱中，发现AF（正常）占49.52%，血红蛋白FS（镰状细胞病）+FS Bart s（伴有α地中海贫血的镰状细胞病）占2.57%，血红蛋白AFS（镰状细胞性状）+AFS Bart s（伴有α地中海贫血的镰状细胞性状）占21.14%，α地中海贫血（基于Bart s血红蛋白升高≥2%）占35.68%。男性和女性的G6PD缺乏症发生率分别为37.02%和21.27%。在563名初步诊断为镰状细胞病的沙特新生儿中，48名（8.5%）未到血液科就诊或无法联系到。513名患者确诊为镰状细胞贫血或镰状细胞地中海贫血，2例在复查时发现为镰状细胞性状。许多家长难以接受最初的诊断及其对他们相互关系的影响。
预防和早期识别镰状细胞病、其他主要血红蛋白病和G6PD缺乏症仍然是这些疾病管理的基石。血红蛋白病新生儿筛查成功的主要障碍是教育水平和人力不足。我们建议将血红蛋白病和G6PD缺乏症的新生儿筛查纳入东部省份的国家甲状腺功能减退症筛查计划，并在卡提夫建立一个具有高标准医疗服务水平的血红蛋白病专科中心。
