A neonate with Coombs-negative hemolytic jaundice with spherocytes but normal erythrocyte indices: A rare case of autosomal-recessive hereditary spherocytosis due to alpha-spectrin deficiency

Journal of Perinatology

Volumn 33, Issue 5, 2013, Pages 404-406

  Yaish, H M ^a   Christensen, R D ^b   Agarwal, A ^a  

^a UNIVERSITY OF UTAH SCHOOL OF MEDICINE   (United States)

^b McKay Dee Hospital Center   (United States)

Author keywords

spectrin; autosomal recessive; hereditary spherocytosis; neonatal presentation

Indexed keywords

BILIRUBIN; FODRIN; HEMOGLOBIN;

ALPHA SPECTRIN DEFICIENCY; ARTICLE; BILIRUBIN BLOOD LEVEL; BLOOD EXAMINATION; CASE REPORT; COOMBS NEGATIVE HEMOLYTIC JAUNDICE; COOMBS TEST; ERYTHROCYTE DISORDER; ERYTHROCYTE TRANSFUSION; HEMOGLOBIN BLOOD LEVEL; HEMOLYTIC ANEMIA; HEREDITARY SPHEROCYTOSIS; HUMAN; MALE; NEWBORN; NEWBORN JAUNDICE; PALLOR; PHOTOTHERAPY; POLYACRYLAMIDE GEL ELECTROPHORESIS; PROTEIN DEFECT;

COOMBS TEST; ERYTHROCYTE INDICES; HUMANS; INFANT, NEWBORN; JAUNDICE; MALE; SPECTRIN; SPHEROCYTES; SPHEROCYTOSIS, HEREDITARY;

EID: 84877284044     PISSN: 07438346     EISSN: 14765543     Source Type: Journal    
DOI: 10.1038/jp.2012.67     Document Type: Article

References (14)

1. Perrotta S, Gallagher PG, Mohandas N. Hereditary spherocytosis. Lancet 2008; 18: 372 (9647): 1411-1426.
2. Gallagher PG, Glader B. Hereditary spherocytosis, hereditary elliptocytosis, and other disorders associated with abnormalities of the erythrocyte membrane In: Greer JP, Foerster J, Rodgers GM, Paraskevas F, Glader B, Arber DA, Means RT Jr (eds). Wintrobe's Clinical Hematology. Wolters Kluwer/Lippincott/Williams & Wilkins, Philadelphia, 12th edn 2009 pp 913-920.
3. Christensen RD, Henry E. Hereditary spherocytosis in neonates with hyperbilirubine-mia. Pediatrics 2010; 125: 120-125.
4. Sheffield MJ, Christensen RD. Evaluating neonatal hyperbilirubinemia in late preterm Hispanic twins led to the diagnosis of hereditary spherocytosis in them, and in their sibling, and in their mother. J Perinatol 2011; 31: 625-627.
5. Coetzer T, Layler J, Prchal JT, Palek J. Molecular determinants of clinical expression of hereditary elliptocytosis and pyropoikilocytosis. Blood 1987; 70: 766-772.
6. Coetzer TL, Sahr K, Prchal JT, Blacklock H, Peterson L, Koler R et al. Four different mutations in codon 28 of alpha spectrin are associated with structurally and functionally abnormal spectrin alpha 1/74 in hereditary elliptocytosis. J Clin Invest 1991; 88: 743-749.
7. Wichterle H, Hanspal M, Palek J, Jarolim P. Combination of two mutant alpha spectrin alleles underlies a severe spherocytic hemolytic anemia. J Clin Invest 1996; 15: 98 (10): 2300-2307.
8. Christensen RD, Jopling J, Henry E, Wiedmeier SE. The erythrocyte indices of neonates, defined using data from over 12000 patients in a multihospital health care system. J Perinatol 2008; 28: 24-28.
9. Dhermy D, Steen-Johnsen J, Bournier O, Hetet G, Cynober T, Tchernia G et al. Coinheritance of two alpha-spectrin gene defects in a recessive spherocytosis family. Clin Lab Haematol 2000; 22(6): 329-336.
10. Delaunay J. Molecular basis of red cell membrane disorders. Acta Haematol 2002; 108(4): 210-218.
11. Tolpinrud W, Maksimova YD, Forget BG, Gallagher PG. Nonsense mutations of the alpha-spectrin gene in hereditary pyropoikilocytosis. Haematologica 2008; 93: 1752-1754.
12. Wilmotte R, Maréchal J, Morlé L, Baklouti F, Philippe N, Kastally R et al. Low expression allele á-LELY of red cell spectrin is associated with mutations in exon 40 (a V/41 polymorphism) and intron 45 and with partial skipping of exon 46. J Clin Invest 1993; 91: 2091-2096.
13. Agarwal N, Swierczek S, Lorenzo FR, Prchal JT. Novel exon 2 alpha spectrin mutation in a Caucasian family with pyropoikilocytosis, elliptocytosis, and normal morphology: Three phenotypes due to decreased spectrin mRNA and intragenic crossover. Blood 2008; 3840.
14. 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: 1310-1317.