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1.
Chinese Journal of Blood Transfusion ; (12): 249-253, 2022.
Artículo en Chino | WPRIM | ID: wpr-1004357

RESUMEN

【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.

2.
Chinese Journal of Internal Medicine ; (12): 511-513, 2018.
Artículo en Chino | WPRIM | ID: wpr-710085

RESUMEN

Clinical data of 19 patients with congenital pyruvate kinase deficiency were analyzed. Insufficient pyruvate kinase confirmed the diagnosis. Laboratory parameters of hemolysis were summarized. In cases of neonatal hyperbilirubinemia and unexplained hemolytic anemia, pyruvate kinase activity and next generation sequencing test may help the early diagnosis.

3.
Clinical Pediatric Hematology-Oncology ; : 1-6, 2012.
Artículo en Coreano | WPRIM | ID: wpr-788463

RESUMEN

The RBC enzyme deficiencies causing hereditary hemolytic anemia (HHA) can be divided into three groups: those participating in the glycolytic (E-M) pathway; those involved with the maintenance of a high ratio of reduced to oxidized glutathione; one enzyme in the nucleotide degradation and salvage pathway. Although RBC enzyme deficiencies causing HHA are rare, 3 of the 15 kinds of important and relatively frequently reported enzyme deficiencies such as pyruvate kinase, glucose-6-phosphate-dehydrogenase and pyrimidine-5'-nucleotidase deficiencies are briefly reviewed. The molecular genetics, clinical symptoms, diagnosis and therapeutic approaches of each enzyme deficiencies are summerized. As these enzyme deficiencies are reported throughout the world as well as in Korea with the identification of the mutations, considering a broad spectrum of etiologies for the diagnosis of HHA seems to be warranted.


Asunto(s)
Anemia Hemolítica Congénita , Eritrocitos , Deficiencia de Glucosafosfato Deshidrogenasa , Corea (Geográfico) , Biología Molecular , Piruvato Quinasa
4.
Clinical Pediatric Hematology-Oncology ; : 1-6, 2012.
Artículo en Coreano | WPRIM | ID: wpr-77654

RESUMEN

The RBC enzyme deficiencies causing hereditary hemolytic anemia (HHA) can be divided into three groups: those participating in the glycolytic (E-M) pathway; those involved with the maintenance of a high ratio of reduced to oxidized glutathione; one enzyme in the nucleotide degradation and salvage pathway. Although RBC enzyme deficiencies causing HHA are rare, 3 of the 15 kinds of important and relatively frequently reported enzyme deficiencies such as pyruvate kinase, glucose-6-phosphate-dehydrogenase and pyrimidine-5'-nucleotidase deficiencies are briefly reviewed. The molecular genetics, clinical symptoms, diagnosis and therapeutic approaches of each enzyme deficiencies are summerized. As these enzyme deficiencies are reported throughout the world as well as in Korea with the identification of the mutations, considering a broad spectrum of etiologies for the diagnosis of HHA seems to be warranted.


Asunto(s)
Anemia Hemolítica Congénita , Eritrocitos , Deficiencia de Glucosafosfato Deshidrogenasa , Corea (Geográfico) , Biología Molecular , Piruvato Quinasa
5.
Genet. mol. res. (Online) ; 6(2): 470-475, 2007. graf, ilus
Artículo en Inglés | LILACS | ID: lil-482022

RESUMEN

Pyruvate kinase (PK) deficiency is a rare red cell glycolytic enzymopathy. The purpose of the present investigation was to offer prenatal diagnosis for PK deficiency to a couple who had a previous child with severe enzyme deficiency and congenital non-spherocytic hemolytic anemia. PK deficiency was identified in the family by assaying the enzyme activity in red cells. Chorionic villus sampling was performed in an 11-week gestation and the mutation was located in exon 10 of the PKLR gene characterized by polymerase chain reaction and using restriction endonuclease digestion with the MspI enzyme, which was confirmed by DNA sequencing on the ABI 310 DNA sequencer. Both the parents were heterozygous for the 1436G-->A [479 Arg-->His] mutation in exon 10 and the proband was homozygous for this mutation. The fetus was also heterozygous for this mutation and the pregnancy was continued. Prenatal diagnosis allowed the parents with a severely affected child with PK deficiency to have the reproductive choice of having the fetus tested in a subsequent pregnancy.


Asunto(s)
Humanos , Masculino , Femenino , Embarazo , Anemia Hemolítica Congénita no Esferocítica/diagnóstico , Diagnóstico Prenatal/métodos , Mutación , Piruvato Quinasa/deficiencia , Piruvato Quinasa/genética , Anemia Hemolítica Congénita no Esferocítica/genética , Anemia Hemolítica/genética , Análisis Mutacional de ADN , Enzimas de Restricción del ADN/metabolismo , Homocigoto , Primer Trimestre del Embarazo , Exones , India
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