Disease relevance of Anemia, Hemolytic, Congenital

• Successful long-term phenobarbital therapy of hyperbilirubinemia in congenital hemolytic anemia due to glucose phosphate isomerase deficiency [1].
• These results confirmed the findings of Valentine et al [1] that lead-induced deficiency of P5N resulted in basophilic stippling and hemolytic anemia just like hereditary hemolytic anemia due to P5N deficiency [2].
• Triosephosphate isomerase deficiency in a child with congenital hemolytic anemia and severe hypotonia [3].
• The association between acute red blood cell aplasia and infection with parvovirus B19 is well described in patients with hereditary hemolytic anemia, particularly sickle cell anemia [4].

High impact information on Anemia, Hemolytic, Congenital

• Abnormalities of adenosine deaminase, a critical enzyme of the purine salvage pathway, have been reported in association with immune dysfunction, acute leukemia, and hereditary hemolytic anemia [5].
• Fructose-1,6-bisphosphate aldolase A (fructose-bisphosphate aldolase; EC 4.1.2.13) deficiency is an autosomal recessive disorder associated with hereditary hemolytic anemia [6].
• Molecular analysis of 29 pyruvate kinase-deficient patients from central Europe with hereditary hemolytic anemia [7].
• Molecular analysis of glucose phosphate isomerase deficiency associated with hereditary hemolytic anemia [8].
• An alanine-to-threonine substitution in protein 4.2 cDNA is associated with a Japanese form of hereditary hemolytic anemia (protein 4.2NIPPON) [9].

Chemical compound and disease context of Anemia, Hemolytic, Congenital

• Hereditary hemolytic anemia with increased red cell adenosine deaminase (45- to 70-fold) and decreased adenosine triphosphate [10].
• Mutations in the pyruvate kinase L gene in patients with hereditary hemolytic anemia [11].
• Uncertainties regarding the role of pyrimidine nucleotidase (PyrNase) in AMP catabolism were resolved by studies of erythrocytes from normal controls, controls with young mean cell ages, and patients with hereditary hemolytic anemia due to severe deficiency of PyrNase [12].
• Heme synthesis in hereditary hemolytic anemias: decreased delta-aminolevulinic acid synthetase in hemoglobin Köln disease [13].
• Erythrocyte fructose 2,6-bisphosphate content in congenital hemolytic anemias [14].

Biological context of Anemia, Hemolytic, Congenital

• Misprimed polymerase chain reaction (PCR) products were generated from the crude leukocytic DNA extract of four of five patients with hereditary hemolytic anemia, during the course of exon 6 pyruvate kinase L gene amplification [15].
• Both of the genetically identical compound heterozygote brothers have congenital hemolytic anemia, but only one of them has a neurological defect, the second cardinal symptom of TPI deficiency [16].

Anatomical context of Anemia, Hemolytic, Congenital

• Erythrocyte adenosine deaminase overproduction in hereditary hemolytic anemia [17].

Gene context of Anemia, Hemolytic, Congenital

• Since the discovery of glucose 6-phosphate dehydrogenase (G6PD) and of pyruvate kinase deficiencies, erythroenzymopathies associated with hereditary hemolytic anemia have been extensively investigated [18].
• We report here a case of red cell adenylate kinase (AK) deficiency associated with hereditary hemolytic anemia [19].
• A 4-year-old female with severe congenital hemolytic anemia had low red cell GPI activity of 15.5 IU/g Hb (50% of normal mean) indicating GPI deficiency [20].
• The primary structures of only two normal red cell enzymes which can cause hereditary hemolytic anemia, phosphoglycerate kinase (PGK) and adenylate kinase, have been determined [18].
• Two cases of phosphofructokinase deficiency associated with congenital hemolytic anemia found in Japan [21].

References