Compounded with hemoglobin Port Phillip and ‐α4.2 or ‐‐SEA deletions were identified in Chinese population

• Published in: Molecular genetics & genomic medicine Vol. 9; no. 9; pp. e1699 - n/a
• Main Authors: Du, Li, Bao, Xiuqin, Qin, Danqing, Wang, Jicheng, Yao, Cuize, Liang, Jie, Chen, Jianhong, Yin, Aihua
• Format: Journal Article
• Language: English
• Published: Bognor Regis John Wiley & Sons, Inc 01.09.2021; John Wiley and Sons Inc; Wiley
• Subjects: Amniotic fluid; Automation; Blood; Blood diseases; Blood transfusions; Clinical Report; Clinical Reports; Deletion; Electrophoresis; Fetuses; Genetic counseling; Genetic screening; Genotype & phenotype; Genotypes; Genotyping; Hematology; Hemoglobin; hemoglobin variants; Hemoglobinopathy; Maternal & child health; Mutation; Patients; Prenatal diagnosis; Thalassemia; Umbilical cord; China

Introduction Although over 1000 hemoglobin (Hb) variants were identified so far, Hb Port Phillip compound with α‐thalassemia deletion had no reported before. Methods Two patients and the associated families from Guangdong province in China were recruited. Hematological parameters were determined by...