Skip to main content

Thank you for visiting nature.com. You are using a browser version with limited support for CSS. To obtain the best experience, we recommend you use a more up to date browser (or turn off compatibility mode in Internet Explorer). In the meantime, to ensure continued support, we are displaying the site without styles and JavaScript.

  • Perinatal/Neonatal Case Presentation
  • Published:

Perinatal/Neonatal Case Presentation

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 volume 33, pages 404–406 (2013)Cite this article

Subjects

Abstract

The diagnosis of hereditary spherocytosis (HS) in a newborn infant is generally made on the basis of a positive family history, spherocytes on blood film and Coombs-negative hemolytic jaundice of variable severity with an elevated mean corpuscular hemoglobin concentration (MCHC) and a low mean corpuscular volume (MCV). In general, sodium dodecyl sulfate polyacrylamide gel electrophoresis (SDS-PAGE) quantification of erythrocyte membrane proteins is not needed to make the clinical diagnosis of HS. However, we observed that a neonate with no family history of HS, but with abundant spherocytosis on repeated blood films, Coombs-negative hemolytic jaundice and normal MCHC and MCV measurements, where SDS-PAGE revealed alpha-spectrin deficiency, a rare autosomal-recessive variety of HS that generally has a severe clinical phenotype.

This is a preview of subscription content, access via your institution

Access options

Buy this article

  • Purchase on Springer Link
  • Instant access to full article PDF
Buy now

Prices may be subject to local taxes which are calculated during checkout

Similar content being viewed by others

References

  1. Perrotta S, Gallagher PG, Mohandas N . Hereditary spherocytosis. Lancet 2008; 18: 372 (9647): 1411–1426.

    Google Scholar 

  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.

    Google Scholar 

  3. Christensen RD, Henry E . Hereditary spherocytosis in neonates with hyperbilirubinemia. Pediatrics 2010; 125: 120–125.

    Article  Google Scholar 

  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.

    Article  CAS  Google Scholar 

  5. Coetzer T, Layler J, Prchal JT, Palek J . Molecular determinants of clinical expression of hereditary elliptocytosis and pyropoikilocytosis. Blood 1987; 70: 766–772.

    CAS  PubMed  Google Scholar 

  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.

    Article  CAS  Google Scholar 

  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.

    Google Scholar 

  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.

    Article  CAS  Google Scholar 

  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.

    Article  CAS  Google Scholar 

  10. Delaunay J . Molecular basis of red cell membrane disorders. Acta Haematol 2002; 108 (4): 210–218.

    Article  CAS  Google Scholar 

  11. Tolpinrud W, Maksimova YD, Forget BG, Gallagher PG . Nonsense mutations of the alpha-spectrin gene in hereditary pyropoikilocytosis. Haematologica 2008; 93: 1752–1754.

    Article  Google Scholar 

  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.

    Article  CAS  Google Scholar 

  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.

    Article  CAS  Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Division of Hematology/Oncology, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, UT, USA

    H M Yaish

  2. Department of Women and Newborns, Intermountain Healthcare, McKay-Dee Hospital Center, Salt Lake City, UT, USA

    R D Christensen

  3. Department of Pathology, Special Genetics Division, University of Utah School of Medicine and ARUP Laboratories, Salt Lake City, UT, USA

    A Agarwal

Authors
  1. H M Yaish
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. R D Christensen
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. A Agarwal
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to R D Christensen.

Ethics declarations

Competing interests

The authors declare no conflict of interest.

Rights and permissions

Reprints and permissions

About this article

Cite this article

Yaish, H., Christensen, R. & Agarwal, A. 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. J Perinatol 33, 404–406 (2013). https://doi.org/10.1038/jp.2012.67

Download citation

  • Received:

  • Revised:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1038/jp.2012.67

Keywords

This article is cited by

Search

Advanced search

Quick links