东京-1突变：一名西班牙裔新生儿的遗传性球形红细胞增多症表现为早发性严重高胆红素血症。
Tokyo-1 Mutation: Hereditary Spherocytosis in a Hispanic Newborn Presenting as Early Onset Severe Hyperbilirubinemia.
作者信息
Tan April W, Leung Pablo, Patil Uday P
机构信息
a Department of Pediatrics , Icahn School of Medicine at Mount Sinai, Elmhurst Hospital Center , Elmhurst , New York , USA.
出版信息
Fetal Pediatr Pathol. 2018 Aug;37(4):296-300. doi: 10.1080/15513815.2018.1485797. Epub 2018 Sep 12.
BACKGROUND
Hereditary spherocytosis in the Hispanic population does not often present with severe hyperbilirubinemia. Spectrin and band 3 mutations are most frequent in this population.
CASE REPORT
We present a Hispanic full-term female newborn with early onset significant hyperbilirubinemia without a history of familial hemolytic disorders. She was diagnosed with hereditary spherocytosis based on laboratory findings, including presence of spherocytes on a peripheral smear, and was later found by next-generation sequencing to have Tokyo-1 mutation, an ANK1 gene mutation, that was previously only reported in Japanese population.
CONCLUSION
Our report adds to the currently limited literature of the genetic spectrum and characteristics of hereditary spherocytosis in the Hispanic population. The absence of a positive family history does not preclude hereditary spherocytosis as a differential for pathologic neonatal hyperbilirubinemia.
背景
西班牙裔人群中的遗传性球形红细胞增多症通常不会表现出严重的高胆红素血症。血影蛋白和带3突变在该人群中最为常见。
病例报告
我们报告了一名西班牙裔足月女新生儿，出生后早期即出现显著的高胆红素血症，且无家族性溶血性疾病病史。根据实验室检查结果，包括外周血涂片上出现球形红细胞，她被诊断为遗传性球形红细胞增多症，后来通过下一代测序发现她存在Tokyo-1突变，这是一种ANK1基因突变，此前仅在日本人群中报道过。
结论
我们的报告增加了目前关于西班牙裔人群遗传性球形红细胞增多症遗传谱和特征的有限文献。家族史阴性并不能排除遗传性球形红细胞增多症作为病理性新生儿高胆红素血症的鉴别诊断。
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