Frequencies of HKαα and anti-HKαα Alleles in Chinese Carriers of Silent Deletional α-Thalassemia
Frequencies of HKαα and anti-HKαα Alleles in Chinese Carriers of Silent Deletional α-Thalassemia
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DOI：
10.3109/03630269.2015.1071268
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发表时间：
2015-01-01
期刊：
影响因子：
1
通讯作者：
Li, Dong-Zhi
中科院分区：
文献类型：
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作者：
Wu, Man-Yu;Li, Jian;Li, Dong-Zhi
HK α α（香港α α）等位基因是α -珠蛋白基因簇的一个不寻常的重排基因，包含- α(3.7)（向右）和aaa抗4.2交叉缺失/重复。anti- hk alpha alpha（anti- hongkong alpha alpha）等位基因是包含-alpha(4.2)（向左）和aaa（3.7）不平等交叉缺失/重复的倒数产物。在地中海贫血筛查的临床实践中，采用间隙聚合酶链反应（gap-PCR）方法检测α -地中海贫血（α -thal）常见的- α(3.7)和- α(4.2)缺失。由于HK α α和抗HK α α等位基因也含有单个α -珠蛋白基因缺失，携带这些等位基因的个体可能被误诊为- α(3.7)或- α(4.2)携带者。这可能会在遗传咨询中产生误导或不正确的信息。在本研究中，我们调查了中国沉默缺失型α -thal携带者的HK α α和抗HK α α等位基因，报道了它们在- α(3.7)和- α(4.2)携带者中的频率分别为2.27%和0.35%。鉴于HK α α和抗HK α α等位基因的罕见性，在大多数情况下不太可能需要对这两种重排进行常规筛查。
The HK alpha alpha (HongKong alpha alpha) allele is an unusual rearrangement of the alpha-globin gene cluster containing both the -alpha(3.7) (rightward) and aaa anti 4.2 crossover deletion/duplication. The anti-HK alpha alpha (anti-HongKong alpha alpha) allele is the reciprocal product containing both the -alpha(4.2) (leftward) and aaa anti 3.7 unequal crossover deletion/duplication. In clinical practice of thalassemia screening, gap-polymerase chain reaction (gap-PCR) approaches are used to detect the common -alpha(3.7) and -alpha(4.2) deletions of alpha-thalassemia (alpha-thal). Because the HK alpha alpha and anti-HK alpha alpha alleles also contain the single alpha-globin gene deletion, individuals with these alleles would be misdiagnosed as -alpha(3.7) or -alpha(4.2) carriers. This would likely produce misleading or incorrect information in genetic counseling. In this study, we investigated the HK alpha alpha and anti-HK alpha alpha alleles in Chinese carriers of silent deletional alpha-thal, and reported their frequencies to be 2.27 and 0.35% in -alpha(3.7) and -alpha(4.2) carriers, respectively. Given the rarity of the HK alpha alpha and anti-HK alpha alpha alleles, a routine screening for these two rearrangements are unlikely to be necessary on most occasions.