Article
Cytopenia: a report of haplo-cord transplantation in twin brothers caused by a novel germline GATA1 mutation and family survey.
Annals of hematology - 1 Nov 2023
Sun Xing-Hua, Liu Qin, Wu Sheng-Nan, Xu Wu-Hen, Chen Kai, Shao Jing-Bo, Jiang Hui
Abstract excerpt
Cytopenia due to the abnormal regulation of GATA1 could manifest as varying degrees of thrombocytopenia and/or anemia and more severely in male children than in female children. Here, we describe the case of pancytopenic and transfusion-dependent twin brothers at our center whose bone marrow puncture revealed low bone marrow hyperplasia. Whole-exome sequencing revealed that the twins had a new germline GATA1...
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