Belhoul Khawla M, Abdulrahman Mahera, Alraei Rafeeiah F
Dubai Thalassemia Center, Dubai Health Authority, Dubai, United Arab Emirates.
Hemoglobin. 2013;37(4):359-68. doi: 10.3109/03630269.2013.791627. Epub 2013 May 7.
The aim of this study was to determine the prevalence of hemoglobinopathy carriers in United Arab Emirates (UAE) nationals subjected to mandatory premarital screening in Dubai over a 4-year period. Data from UAE nationals who underwent premarital screening by the Dubai Health Authority between January 2007 and December 2010 were collected and analyzed. Premarital screening in Dubai is based on complete blood counts (CBC) and hemoglobin (Hb) high performance liquid chromatography (HPLC). Among the 6,420 UAE nationals screened, 8.5% (n = 545) were suspected to be carriers. The following carrier frequencies were observed: β-thalassemia (β-thal), 4.56% (n = 293); Hb S [β6(A3)Glu→Val, GAG>GTG; HBB: c.20A>T], 2.9% (n = 186); Hb D-Punjab [β121(GH4)Glu→Gln, GAA>CAA; HBB: c.364G>C], 0.78% (n = 50); Hb Lepore (δβ hybrid gene) with an undetermined molecular genotype, 0.17% (n = 11); Hb E [β26(B8)Glu→Lys, GAG>AAG; HBB: c.79G>A], 0.03% (n = 2); and hereditary persistence of fetal Hb (HPFH), 0.016% (n = 1). Hb E-Hb S and Hb E-β-thal also occurred at a rate of 0.016% (n = 1) each; and 0.87% (n = 56) subjects were suspected of carrying silent β-thal. The prevalence of β-thal trait was consistent with the prevalence published by others in the region. Silent β-thal is challenging for screening programs, and is expected to arise in populations with a high prevalence of β-thal carriers. The prevalence of Hb S trait observed in this study was lower than that in other reports for the region. New cases of β-thal major (β-TM) still arise because many fertile couples got married before the screening programs were implemented, and pregnancy termination is not widely practiced in the UAE due to religious restraints. Moreover, some couples choose not to have prenatal diagnosis (PND) or pre implantation genetic diagnosis (PGD), even if they are aware of their risk status. The prevalence of β-thal trait in the UAE is high. This justifies efforts to control the disease by holding regular community awareness and screening programs, performing premarital screening and genetic counseling, and making PND and PGD available to couples who request it.
本研究的目的是确定在迪拜接受强制性婚前筛查的4年期间，阿拉伯联合酋长国（阿联酋）国民中血红蛋白病携带者的患病率。收集并分析了2007年1月至2010年12月期间迪拜卫生局对阿联酋国民进行婚前筛查的数据。迪拜的婚前筛查基于全血细胞计数（CBC）和血红蛋白（Hb）高效液相色谱（HPLC）。在接受筛查的6420名阿联酋国民中，8.5%（n = 545）被怀疑为携带者。观察到以下携带者频率：β地中海贫血（β-thal），4.56%（n = 293）；Hb S [β6(A3)Glu→Val, GAG>GTG; HBB: c.20A>T]，2.9%（n = 186）；Hb D-旁遮普 [β121(GH4)Glu→Gln, GAA>CAA; HBB: c.364G>C]，0.78%（n = 50）；分子基因型未确定的Hb Lepore（δβ杂交基因），0.17%（n = 11）；Hb E [β26(B8)Glu→Lys, GAG>AAG; HBB: c.79G>A]，0.03%（n = 2）；以及胎儿血红蛋白遗传性持续存在（HPFH），0.016%（n = 1）。Hb E-Hb S和Hb E-β-thal的发生率也均为0.016%（n = 1）；0.87%（n = 56）的受试者被怀疑携带静止型β地中海贫血。β地中海贫血特征的患病率与该地区其他人发表的患病率一致。静止型β地中海贫血对筛查项目具有挑战性，预计会在β地中海贫血携带者患病率高的人群中出现。本研究中观察到的Hb S特征的患病率低于该地区的其他报告。由于许多可育夫妇在筛查项目实施之前就已结婚，并且由于宗教限制，在阿联酋终止妊娠并不普遍，所以仍然会出现重型β地中海贫血（β-TM）的新病例。此外，一些夫妇即使知道自己的风险状况，也选择不进行产前诊断（PND）或植入前基因诊断（PGD）。阿联酋β地中海贫血特征的患病率很高。这证明了通过开展定期的社区宣传和筛查项目、进行婚前筛查和遗传咨询以及为有需求的夫妇提供PND和PGD来控制该疾病的努力是合理的。
