Novel α0-Thalassemia Deletion Identified in an Indian Infant with Hb H Disease
Novel α0-Thalassemia Deletion Identified in an Indian Infant with Hb H Disease
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DOI：
10.1080/03630269.2020.1797774
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发表时间：
2020-07-27
期刊：
影响因子：
1
通讯作者：
Brennan, Stephen O.
中科院分区：
文献类型：
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作者：
Moore, Jordyn A.;Pullon, Beverley M.;Brennan, Stephen O.
我们报告了一个α-珠蛋白基因簇的大缺失，该基因簇去除了HBA 2和HBA 1，并包括16号染色体上从HBZ到HBQ 1的区域（16p13.3）。α（0）-地中海贫血（α（0）-塔尔）缺失是在一个居住在新西兰的印度家庭中发现的。先证者是一个3个月大的女性，谁提出了一个血红蛋白H疾病的分子来源不明。常规血液学显示明显的低色素小细胞性贫血，伴有大量Hb H包涵体。在没有缺铁的情况下，临床上强烈怀疑是α-地中海贫血。在使用多重缺口聚合酶链反应（gap-PCR）的初始筛选中，仅检测到常见的缺失（-α（3.7））。对先证者的母亲和父亲的调查显示，母亲是α（3.7）缺失的杂合子，而在父亲中没有检测到7种最常见的致病性α-地中海缺失。采用多重连接依赖探针扩增（MLPA）检测先证者及其父亲是否存在新型α（0）-塔尔缺失。对于先证者，α（0）-塔尔缺失结合α（3.7）缺失，消除了3个HBADNA拷贝，符合Hb H病的临床诊断。
We report the identification of a large deletion of the alpha-globin gene cluster, which removed bothHBA2andHBA1and included the region fromHBZtoHBQ1on chromosome 16 (16p13.3). The alpha(0)-thalassemia (alpha(0)-thal) deletion was discovered in an Indian family residing in New Zealand. The proband was a 3-month-old female, who presented with a Hb H disease of unknown molecular origin. Routine hematology showed marked hypochromic microcytic anemia, with numerous Hb H inclusion bodies. In the absence of iron deficiency, there was a strong clinical suspicion of alpha-thal. On initial screening using a multiplex gap polymerase chain reaction (gap-PCR), only the common rightward deletion (-alpha(3.7)) was detected. Investigation of the proband's mother and father revealed the mother was heterozygous for the -alpha(3.7)deletion, while none of the seven most common pathogenic alpha-thal deletions were detected in the father. Multiplex ligation-dependent probe amplification (MLPA) was employed to detect the presence of a novel alpha(0)-thal deletion in both the proband and her father. For the proband, the alpha(0)-thal deletion in combination with the -alpha(3.7)deletion, eliminated three copies ofHBAconsistent with a clinical diagnosis of Hb H disease.