Hereditary spherocytosis in an 18-month-old boy with pancytopenia: A case report
DOI:
https://doi.org/10.22122/cdj.v1i2.40Keywords:
Hereditary Spherocytosis, Familial Hemolytic Disorder, Hemolytic Disorder, Anemia, Spherocytes, Reticulocyte, Osmotic Fragility TestAbstract
Hereditary spherocytosis (HS) is a familial hemolytic disorder with marked heterogeneity of clinical features, ranging from an asymptomatic condition to a fulminant hemolytic anemia. Although a positive family history of spherocytosis increases the risk for this disorder, it may be sporadic in some cases. In severe cases the disorder may be detected in early childhood, but in mild cases it may go unnoticed until later in adulthood. The case was an 18-month-old boy from Sanandaj, Iran with 3 days decreased activity movement, poor feeding, pallor and urine discoloration since 3 days ego following an episode of fever. He was a case of anemia who was managed conservatively on nutritional supplements. Blood film showed 80% spherocytes, reticulocyte was 0.5%, increased osmotic fragility test and a negative direct Coombs.
References
Perrotta S, Gallagher PG, Mohandas N. Hereditary spherocytosis. Lancet 2008; 372(9647): 1411-26.
Segel GB. Hereditary spherocytosis. In: Behrman RE, Jenson HB, Editors. Nelson's Textbook of Pediatrics. 17th ed. Philadelphia, PA: W. B. Saunders; 2004. p. 1620-21.
Huq S, Pietroni MA, Rahman H, Alam MT. Hereditary spherocytosis. J Health Popul Nutr 2010; 28(1): 107-9.
Yawata Y, Kanzaki A, Yawata A, Doerfler W, Ozcan R, Eber SW. Characteristic features of the genotype and phenotype of hereditary spherocytosis in the Japanese population. Int J Hematol 2000; 71(2): 118-35.
Eber SW, Armbrust R, Schroter W. Variable clinical severity of hereditary spherocytosis: relation to erythrocytic spectrin concentration, osmotic fragility, and autohemolysis. J Pediatr 1990; 117(3): 409-16.
Mariani M, Barcellini W, Vercellati C, Marcello AP, Fermo E, Pedotti P, et al. Clinical and hematologic features of 300 patients affected by hereditary spherocytosis grouped according to the type of the membrane protein defect. Haematologica 2008; 93(9): 1310-7.
Gallagher PG, Jarolim P. Red cell membrane disorders. In: Hoffman R, Benz EJ, Shattil SJ, Furie B, Cohen JH, Silberstein LE, et al., Editors. Hematology: Basic Principles and Practice. 4th ed. London, UK: Churchill Livingstone; 2005. p. 669-91.
Hoffbrand AV, Petit JE, Moss PA. Hereditary haemolyticanaemias. In: Hoffbrand AV, Pettit JE, Moss PA, Editors. Essential haematology. 4th ed. Oxford, UK: Blackwell Scientific; 2001. p. 60-3.
Gallagher PG, Forget BG. Hereditary spherocytosis, elliptocytosis, and related disorders. In: Beutler E, Coller BS, Lichtman MA, Kipps TJ, Seligsohn U, Editors. Williams Hematology. 6th ed. New York, NY: McGraw-Hill, Health Professions Division; 2001. p. 1189-209.
Pallister C. Disorders of red cell survival. In: Pallister C, Editor. Blood: Physiology and Pathophysiology. 5th ed. Oxford, UK: Butterworth-Heinemann; 1994. p. 33-52.
Shah S, Vega R. Hereditary spherocytosis. Pediatr Rev 2004; 25(5): 168-72.
Eber SW, Gonzalez JM, Lux ML, Scarpa AL, Tse WT, Dornwell M, et al. Ankyrin-1 mutations are a major cause of dominant and recessive hereditary spherocytosis. Nat Genet 1996; 13(2): 214-8.
Hassoun H, Palek J. Hereditary spherocytosis: a review of the clinical and molecular aspects of the disease. Blood Rev 1996; 10(3): 129-47.
Iolascon A, Miraglia del GE, Perrotta S, Alloisio N, Morle L, Delaunay J. Hereditary spherocytosis: from clinical to molecular defects. Haematologica 1998; 83(3): 240-57.
