Congenital Nonspherocytic Hemolytic Anemia (Anemia, Hemolytic Congenital, Nonspherocytic)

Any one of a group of congenital hemolytic anemias in which there is no abnormal hemoglobin or spherocytosis and in which there is a defect of glycolysis in the erythrocyte. Common causes include deficiencies in GLUCOSE-6-PHOSPHATE ISOMERASE; PYRUVATE KINASE; and GLUCOSE-6-PHOSPHATE DEHYDROGENASE.

Also Known As:

Networked: 42 relevant articles (0 outcomes, 3 trials/studies)

Disease Context: Research Results

Related Diseases

1.	Muscular Diseases (Myopathy)
2.	Pyruvate Kinase Deficiency of Red Cells
3.	Mental Disorders (Mental Disorder)
4.	Muscle Weakness
5.	Heart Failure

Experts

1.	Barcellini, Wilma: 2 articles (10/2020 - 01/2018)
2.	Grace, Rachael F: 2 articles (10/2020 - 01/2018)
3.	Devendra, Rati: 1 article (01/2021)
4.	Dongerdiye, Rashmi: 1 article (01/2021)
5.	Kedar, Prabhakar: 1 article (01/2021)
6.	Sampagar, Abhilasha: 1 article (01/2021)
7.	Warang, Prashant: 1 article (01/2021)
8.	Al-Sayegh, Hasan: 1 article (01/2018)
9.	Bianchi, Paola: 1 article (01/2018)
10.	Bradeen, Heather A: 1 article (01/2018)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Congenital Nonspherocytic Hemolytic Anemia:

1.	EnzymesIBA 08/01/1959 - "Enzyme deficiency in erythrocytes in congenital nonspherocytic hemolytic anemia." 10/01/2020 - "Pyruvate kinase deficiency (PKD) is an autosomal-recessive enzyme defect of the glycolytic pathway that causes congenital nonspherocytic hemolytic anemia. " 12/01/1982 - "It is the consensus of the investigators working in this field that the pathogenesis in three-quarters of the congenital nonspherocytic hemolytic anemia patients remains unknown even after adequate red cell enzyme studies and isopropanol test. " 04/15/1977 - "The deficient red cell enzyme glucosephosphate isomerase (GPI) was characterized in a patient of German origin who had already been described, with congenital nonspherocytic hemolytic anemia, and in his heterozygous parents. " 03/01/1970 - "[Congenital nonspherocytic hemolytic anemia with glutathione-dependent enzyme deficiencies (review of the literature)]."
2.	2-Propanol (Isopropyl Alcohol)FDA LinkGeneric 12/01/1982 - "It is the consensus of the investigators working in this field that the pathogenesis in three-quarters of the congenital nonspherocytic hemolytic anemia patients remains unknown even after adequate red cell enzyme studies and isopropanol test. " 06/01/1983 - "It is the consensus of the investigators working in this field that the pathogenesis in three-quarters of the congenital nonspherocytic hemolytic anemia patients remains unknown even after adequate red cell enzyme studies and isopropanol test for unstable hemoglobin have been done. "
3.	PhosphofructokinasesIBA 11/01/1983 - "Phosphofructokinase deficiency associated with congenital nonspherocytic hemolytic anemia and mild myopathy: biochemical and morphological studies on the muscle." 04/01/1983 - "Two kindreds of phosphofructokinase (PFK) deficiency associated with congenital nonspherocytic hemolytic anemia and mild myopathy were found in Japan. "
4.	Hemoglobins (Hemoglobin)IBA 06/01/1983 - "It is the consensus of the investigators working in this field that the pathogenesis in three-quarters of the congenital nonspherocytic hemolytic anemia patients remains unknown even after adequate red cell enzyme studies and isopropanol test for unstable hemoglobin have been done. "
5.	Glucosephosphate Dehydrogenase (Glucose 6 Phosphate Dehydrogenase)IBA 03/01/1990 - "A new deficient variant of glucose-6-phosphate dehydrogenase (G6PD) causing severe congenital nonspherocytic hemolytic anemia (CNSHA) is described. " 03/01/1990 - "A new glucose-6-phosphate dehydrogenase variant with congenital nonspherocytic hemolytic anemia (G6PD Genova). " 01/01/1982 - "A new glucose-6-phosphate dehydrogenase (G6PD) variant with total deficiency associated with congenital nonspherocytic hemolytic anemia was found in a Costa Rican family. " 01/01/1982 - "G6PD-Puerto Limón: a new deficient variant of glucose-6-phosphate dehydrogenase associated with congenital nonspherocytic hemolytic anemia." 01/01/1982 - "A new variant of glucose-6-phosphate dehydrogenase associated with congenital nonspherocytic hemolytic anemia."
6.	Glucose-6-Phosphate Isomerase (Phosphoglucose Isomerase)IBA 07/01/1986 - "Glucosephosphate isomerase deficiency as the cause of macrocytic congenital nonspherocytic hemolytic anemia is described in three unrelated families. " 02/01/1983 - "A case of congenital nonspherocytic hemolytic anemia associated with glucosephosphate isomerase (GPI) deficiency-GPI 'Kinki'." 09/29/1977 - "Glucosephosphate isomerase deficiency type Liège: a new variant with congenital nonspherocytic hemolytic anemia." 04/15/1977 - "Congenital nonspherocytic hemolytic anemia associated with glucosephosphate isomerase deficiency: variant Paderborn." 06/01/1975 - "Three cases in two families with congenital nonspherocytic hemolytic anemia due to defective glucosephosphate isomerase: GPI Matsumoto."
7.	Glucose (Dextrose)FDA LinkGeneric 01/01/1978 - "Four new electrophoretically slow-moving glucose 6-phosphate dehydrogenase variants associated with congenital nonspherocytic hemolytic anemia found in Japan: Gd(-) Kurume, Gd(-) Fukushima, Gd(-) Yamaguchi and Gd(-) Wakayama." 06/15/1994 - "[Glucose phosphate isomerase deficiency with congenital nonspherocytic hemolytic anemia]." 08/01/1982 - "[A case of congenital nonspherocytic hemolytic anemia associated with defective glucose phosphate isomerase]." 01/01/1974 - "Glucose phosphate isomerase deficiency with congenital nonspherocytic hemolytic anemia: a new variant (type Nordhorn). " 01/01/1974 - "Glucose phosphate isomerase deficiency with congenital nonspherocytic hemolytic anemia: a new variant (type Nordhorn). "
8.	Phosphates (Orthophosphate)IBA 06/15/1994 - "[Glucose phosphate isomerase deficiency with congenital nonspherocytic hemolytic anemia]." 08/01/1982 - "[A case of congenital nonspherocytic hemolytic anemia associated with defective glucose phosphate isomerase]." 01/01/1974 - "Glucose phosphate isomerase deficiency with congenital nonspherocytic hemolytic anemia: a new variant (type Nordhorn). " 01/01/1974 - "Glucose phosphate isomerase deficiency with congenital nonspherocytic hemolytic anemia: a new variant (type Nordhorn). "
9.	IsomerasesIBA 06/15/1994 - "[Glucose phosphate isomerase deficiency with congenital nonspherocytic hemolytic anemia]." 08/01/1982 - "[A case of congenital nonspherocytic hemolytic anemia associated with defective glucose phosphate isomerase]." 01/01/1974 - "Glucose phosphate isomerase deficiency with congenital nonspherocytic hemolytic anemia: a new variant (type Nordhorn). " 01/01/1974 - "Glucose phosphate isomerase deficiency with congenital nonspherocytic hemolytic anemia: a new variant (type Nordhorn). "
10.	Pyruvate KinaseIBA 10/01/1964 - "[Congenital nonspherocytic hemolytic anemia with deficiency of erythrocytic pyruvate kinase]." 01/01/2018 - "An international, multicenter registry was established to collect retrospective and prospective clinical data on patients with pyruvate kinase (PK) deficiency, the most common glycolytic defect causing congenital nonspherocytic hemolytic anemia. " 01/01/1975 - "The effect of intravenous and oral administration of magnesium containing drug (Magnesium Diasporal, Protina, München) on the erythrocyte pyruvate kinase (PK) activity in two cases of congenital nonspherocytic hemolytic anemia associated with PK deficiency has been examined. "

Therapies and Procedures

1.	Oral Administration 01/01/1975 - "The effect of intravenous and oral administration of magnesium containing drug (Magnesium Diasporal, Protina, München) on the erythrocyte pyruvate kinase (PK) activity in two cases of congenital nonspherocytic hemolytic anemia associated with PK deficiency has been examined. "