Division of Neonatology, Department of Pediatrics, University of Utah Health, Salt Lake City, UT, United States of America.
Division of Hematology/Oncology, Department of Pediatrics, University of Utah Health, Salt Lake City, UT, United States of America.
Blood Cells Mol Dis. 2020 Nov;85:102462. doi: 10.1016/j.bcmd.2020.102462. Epub 2020 Jun 25.
Dizygotic twin males, born at 34 weeks gestation, had prolonged jaundice, microcytic, hypochromic anemia, FABarts hemoglobin, elevated end-tidal CO, and blood films consistent with hereditary pyropoikilocytosis. DNA sequencing revealed both had a heterozygous alpha spectrin (SPTA1) mutation (c.460_462dup) inherited from their asymptomatic mother, plus a 3-base pair duplication in alpha globin (HBA2) (c.364_366dupGTG) inherited from their asymptomatic father.
异卵双胞胎男性，胎龄 34 周出生，有持续性黄疸、小细胞低色素性贫血、FABarts 血红蛋白、呼气末 CO 升高和符合遗传性热不稳定血红蛋白病的血片。DNA 测序显示，他们均从无症状的母亲那里遗传了杂合的α- spectrin（SPTA1）突变（c.460_462dup），从无症状的父亲那里遗传了α-珠蛋白（HBA2）的 3 个碱基对重复（c.364_366dupGTG）。
