Case Reports

An unusual case of thalassemia intermedia with inheritable complex repeats detected by single-molecule optical mapping

Department of Medical Genetics, School of Basic Medical Sciences; Innovation Center for Diagnostics and Treatment of Thalassemia, Nanfang Hospital, Southern Medical University, Guangzhou 510515, Guangdong, China; Dongguan Maternal and Child Health Care Hospital, Postdoctoral Innovation Practice Base of Southern Medical University; Prenatal Diagnosis Center, Dongguan Maternal and Child Health Care Hospital, Dongguan 523001, Guangdong
Department of Medical Genetics, School of Basic Medical Sciences; Innovation Center for Diagnostics and Treatment of Thalassemia, Nanfang Hospital, Southern Medical University, Guangzhou 510515, Guangdong, China; Dongguan Maternal and Child Health Care Hospital, Postdoctoral Innovation Practice Base of Southern Medical University; Prenatal Diagnosis Center, Dongguan Maternal and Child Health Care Hospital, Dongguan 523001, Guangdong
Department of TGS Research and Development, Berry Genomics Corporation, Beijing 102200
Department of Medical Genetics, School of Basic Medical Sciences; Innovation Center for Diagnostics and Treatment of Thalassemia, Nanfang Hospital, Southern Medical University, Guangzhou 510515, Guangdong
Department of Medical Genetics, School of Basic Medical Sciences; Innovation Center for Diagnostics and Treatment of Thalassemia, Nanfang Hospital, Southern Medical University, Guangzhou 510515, Guangdong
Department of Medical Genetics, School of Basic Medical Sciences; Innovation Center for Diagnostics and Treatment of Thalassemia, Nanfang Hospital, Southern Medical University, Guangzhou 510515, Guangdong
Department of TGS Research and Development, Berry Genomics Corporation, Beijing 102200
Guangzhou Jiexu Gene Technology Co., Ltd., Guangzhou 510530, Guangdong
Department of Medical Genetics, School of Basic Medical Sciences; Innovation Center for Diagnostics and Treatment of Thalassemia, Nanfang Hospital, Southern Medical University, Guangzhou 510515, Guangdong
Haematologica Early view Sep 28, 2023 https://doi.org/10.3324/haematol.2023.282902