Hereditary Non Spherocytic Hemolytic Anemia: A Series of Rare Hereditary
Red Cell Enzymopathies
Meena Sivasankaran2*, Vamsi Krishna Reddy1, Ravikumar Thangadorai1, Vimal Kumar2, Deenadayalan Munirathnam2
1Department of Paediatrics, Kanchi Kamakoti CHILDs Trust Hospital, Numgambakkam, Chennai, India
2Department of Paediatric Haemato-oncology, Kanchi Kamakoti CHILDs Trust Hospital, Numgambakkam, Chennai, India
*Corresponding Author: Meena Sivasankaran, Department of Paediatric Haemato-oncology, Kanchi Kamakoti CHILDs Trust Hospital, Numgambakkam, Chennai, India.
Received:
March 01, 2021; Published: November 29, 2021
Abstract
Hereditary red cell enzyme disorders are a group of non-immune/non-spherocytic hemolytic anaemia. It occurs due to defect in the genes encoding red blood cell enzymes. Glucose 6 phosphate dehydrogenase (G6PD) is the most common enzyme deficiency. However there are number of other enzyme defect, leading to non-spherocytic hemolytic anemia of variable severity. We describe a series of 4 children with rare RBC ezymopathies.
Keywords: Enzymopathies; Non-immune; Non-spherocytic; Hemolytic Anaemia
References
- Dreyfus JC and Kahn A. “Red cell enzymopathies: molecular mechanisms”. Clinical Biochemistry6 (1984): 331-340.
- Van Wijk R and van Solinge WW. “Disorders of red cells resulting from enzyme abnormalities” (2010).
- Koralkova P., et al. “Rare hereditary red blood cell enzymopathies associated with hemolytic anemia–pathophysiology, clinical aspects, and laboratory diagnosis”. International Journal of Laboratory Hematology 3 (2014): 388-397.
- Kedar PS., et al. “Molecular diagnosis of unexplained haemolytic anaemia using targeted next-generation sequencing panel revealed (p. Ala337Thr) novel mutation in GPI gene in two Indian patients”. Journal of Clinical Pathology1 (2019): 81-85.
- Frank JE. “Diagnosis and management of G6PD deficiency”. American Family Physician7 (2005): 1277-1282.
- Zanella A., et al. “Red cell pyruvate kinase deficiency: molecular and clinical aspects”. British Journal of Haematology 1 (2005): 11-25.
- Manco L., et al. “Hereditary nonspherocytic hemolytic anemia caused by red cell glucose-6-phosphate isomerase (GPI) deficiency in two Portuguese patients: clinical features and molecular study”. Blood Cells, Molecules, and Diseases 60 (2016): 18-23.
- Warang P., et al. “Hereditary non-spherocytic hemolytic anemia and severe glucose phosphate isomerase deficiency in an Indian patient homozygous for the L487F mutation in the human GPI gene”. International Journal of Hematology2 (2012): 263-267.
- Abrusci P., et al. “Erythrocyte adenylate kinase deficiency: characterization of recombinant mutant forms and relationship with nonspherocytic hemolytic anemia”. Experimental Hematology8 (2007): 1182-1189.
- Arya R., et al. “Hereditary red cell enzymopathies”. Blood Review 9 (1995): 165-175.
- Niizuma H., et al. “Splenectomy resolves hemolytic anemia caused by adenylate kinase deficiency”. Pediatrics International2 (2017): 228-230.
Citation
Copyright