Newman Laura A, Luter Meghan A, Davis Dereck B, Abdul-Rahman Omar A, Johnson Juantina M, Megason Gail C
*Department of Pediatrics, University of Mississippi Medical Center, Jackson †Choctaw Health Center, Philadelphia, MS.
J Pediatr Hematol Oncol. 2017 Oct;39(7):573-575. doi: 10.1097/MPH.0000000000000904.
Congenital amegakaryocytic thrombocytopenia is a rare disorder causing thrombocytopenia that progresses to pancytopenia and bone marrow failure if untreated. It is caused by variants in the MPL gene which encodes the thrombopoeitin receptor. In this report, we review 5 cases of congenital amegakaryocytic thrombocytopenia, all of whom belong to the Mississippi Band of Choctaw Indians. There are 2 common variants in these cases: R90X and R537W. One variant was previously reported only once and had unclear significance at that time. With these variants identified, we hope to improve screening that results in earlier diagnosis in the Choctaw population in the future.
先天性无巨核细胞性血小板减少症是一种罕见的导致血小板减少的疾病，如果不进行治疗，会发展为全血细胞减少和骨髓衰竭。它由编码血小板生成素受体的MPL基因突变引起。在本报告中，我们回顾了5例先天性无巨核细胞性血小板减少症病例，所有病例均来自乔克托族印第安人的密西西比部落。这些病例中有两个常见变异：R90X和R537W。其中一个变异此前仅被报道过一次，当时其意义尚不明确。随着这些变异的确定，我们希望改进筛查方法，以便未来能在乔克托族人群中实现更早的诊断。
