Genetic diagnosis of MN and ABO hemolytic disease of the newborn complicated with pyruvate kinase deficiency: a case report and literature review
10.13303/j.cjbt.issn.1004-549x.2022.03.004
- VernacularTitle:MN合并ABO新生儿溶血病并丙酮酸激酶缺乏症的基因学诊断及文献复习
- Author:
Xiaoyan LI
1
;
Xiaoli LAI
1
;
Dan WANG
1
;
Lina ZHANG
2
;
Xuan ZENG
1
Author Information
1. Matemal and Child Health Hospital of Jiangxi Province, Nanchang 330006, China
2. Jiangxi Provincial People’s Hospital
- Publication Type:Journal Article
- Keywords:
Pyruvate Kinase Deficiency;
PKLR gene;
MN neonatal hemolytic disease
- From:
Chinese Journal of Blood Transfusion
2022;35(3):249-253
- CountryChina
- Language:Chinese
-
Abstract:
【Objective】 To investigate the clinical and genetic characteristics of hemolytic disease of the newborn(HDN) induced by anti-M complicated with pyruvate kinase deficiency (PKD) disease. 【Methods】 The clinical data of a pregnant woman with unexplained adverse pregnancy outcome in the third trimester were retrospectively analyzed, and neonate anemia status and blood transfusion were followed up. With informed consent, peripheral blood of the neonate and her parents were collected for serological tests and disease-related gene target sequence capture and sequencing. The clinical and genetic characteristics of HDN induced by anti-M or PKD were reviewed. 【Results】 The neonate presented severe anemia, hepatosplenomegalism, hyperbilirubinemia at birth, and was confirmed MN combined with ABO neonatal hemolysis by serological tests. The neonate recovered by receiving blood exchange and phototherapy treatments, but he needed to receive blood transfusion each month because of hemolytic anemia. Genetic analysis showed that the neonate had compound heterozygous mutations (c. 1096C>T; c. 941T>C) of PKLR gene inherited from her parents. 【Conclusion】 The clinical manifestations of PKD are similar to that of HDN caused by anti-M in the early stage of the disease. Clinicians should exclude the metabolic diseases of red blood cells when diagnosing severe HDN caused by anti-M.
