Case report: A rare heterozygous Hb CS with heterozygous HbE in a family with thalassemia in China
Di Wang,
Han Zhang,
Zhuo Yang,
Wei Su,
Yaling Dou,
Yingchun Xu
Affiliations
Di Wang
Department of Clinical Laboratory, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China
Han Zhang
Department of Clinical Laboratory, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China
Zhuo Yang
Department of Clinical Laboratory, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China
Wei Su
Department of Clinical Laboratory, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China
Yaling Dou
Corresponding author.; Department of Clinical Laboratory, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China
Yingchun Xu
Corresponding author.; Department of Clinical Laboratory, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China
Thalassemia is a hemoglobin disease characterized by reduced or complete absence of the production of the α/β globin gene. Currently, the detection of β-thalassemia carriers is based on differences in blood cell parameters. However, β-thalassemia carriers cannot be distinguished from α- and β-thalassemia co-inherited carriers based solely on hematological findings, and the differential diagnosis must rely on molecular diagnosis. We report a 32-year-old male from Yunnan Province, who had abnormal hemoglobin E without obvious anemia. A rare αCS (CD142, TAA→CAA) combined with a βE (CD26, GAG→AAG) double heterozygous mutation was identified in the proband by PCR-reverse dot blot (PCR-RDB) and DNA sequencing. Additionally, a family lineage analysis was performed. This study complements the spectrum of rare thalassemia gene variants and is critical for clinical genetic counseling.
