Close
New

Medscape is available in 5 Language Editions – Choose your Edition here.

 

Hereditary Disorders of Red Cell Permeability Treatment & Management

  • Author: Vikramjit S Kanwar, MBBS, MBA, MRCP(UK), FAAP; Chief Editor: Max J Coppes, MD, PhD, MBA  more...
 
Updated: Feb 19, 2014
 

Medical Care

Monitor patients with hemolytic anemia for complications of hemolysis, such as cholelithiasis. Acute infections may cause decreased erythropoiesis (eg, parvovirus) or episodes of hyperhemolysis; in either case, an exacerbation of anemia may result. These patients should also receive folate supplementation if they have significant ongoing hemolysis.

Neonates with overhydrated hereditary stomatocytosis (OHSt) or dehydrated hereditary stomatocytosis (DHSt) may require phototherapy, simple blood transfusions, and, occasionally, exchange transfusions for treatment of anemia and hyperbilirubinemia. Prenatal diagnosis with cordocentesis is feasible if a severe variant is suspected, although this is generally useful only if fetal complications are evident.[20]

Next

Surgical Care

Patients with hereditary stomatocytosis syndromes do not require splenectomy. The results of splenectomy vary, and the benefits are unpredictable. Patients with these disorders are at an increased risk of life-threatening thrombosis after splenectomy. Venous thromboemboli predominate, sometimes with complicating pulmonary or portal hypertension.[21, 22] The complication may occur some time after surgery, and a patient who eventually needed a heart and lung transplant has been described.[23] Postoperative anticoagulation has not overcome this problem.

Because of the high risk of serious postsplenectomy thrombosis, the standard infection risks of splenectomy, and uncertain benefits, this procedure should be strongly discouraged in patients with hereditary stomatocytosis syndromes.[1]

Cholecystectomy may be considered in patients with symptomatic cholelithiasis. The level of thrombotic risk is less certain but not trivial.

Previous
Next

Consultations

Because of the rarity of these disorders, consult a pediatric hematologist if questions arise regarding the diagnosis and for further management.

Previous
 
 
Contributor Information and Disclosures
Author

Vikramjit S Kanwar, MBBS, MBA, MRCP(UK), FAAP Professor of Pediatrics, Albany Medical College; Chief, Division of Pediatric Hematology-Oncology, John and Anna Landis Endowed Chair for Pediatric Hematology-Oncology, Medical Director, Melodies Center for Childhood Cancer and Blood Disorders, Albany Medical Center

Vikramjit S Kanwar, MBBS, MBA, MRCP(UK), FAAP is a member of the following medical societies: American Academy of Pediatrics, American Society of Hematology, American Society of Pediatric Hematology/Oncology, Children's Oncology Group, International Society of Pediatric Oncology

Disclosure: Nothing to disclose.

Coauthor(s)

Richard H Sills, MD Professor of Pediatrics, Upstate Medical University

Richard H Sills, MD is a member of the following medical societies: Alpha Omega Alpha, American Academy of Pediatrics, American Society of Hematology, American Society of Pediatric Hematology/Oncology

Disclosure: Nothing to disclose.

Specialty Editor Board

Mary L Windle, PharmD Adjunct Associate Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Nothing to disclose.

James L Harper, MD Associate Professor, Department of Pediatrics, Division of Hematology/Oncology and Bone Marrow Transplantation, Associate Chairman for Education, Department of Pediatrics, University of Nebraska Medical Center; Associate Clinical Professor, Department of Pediatrics, Creighton University School of Medicine; Director, Continuing Medical Education, Children's Memorial Hospital; Pediatric Director, Nebraska Regional Hemophilia Treatment Center

James L Harper, MD is a member of the following medical societies: American Society of Pediatric Hematology/Oncology, American Federation for Clinical Research, Council on Medical Student Education in Pediatrics, Hemophilia and Thrombosis Research Society, American Academy of Pediatrics, American Association for Cancer Research, American Society of Hematology

Disclosure: Nothing to disclose.

Chief Editor

Max J Coppes, MD, PhD, MBA Executive Vice President, Chief Medical and Academic Officer, Renown Heath

Max J Coppes, MD, PhD, MBA is a member of the following medical societies: American College of Healthcare Executives, American Society of Pediatric Hematology/Oncology, Society for Pediatric Research

Disclosure: Nothing to disclose.

Additional Contributors

J Martin Johnston, MD Associate Professor of Pediatrics, Mercer University School of Medicine; Director of Hematology/Oncology, The Children's Hospital at Memorial University Medical Center; Consulting Oncologist/Hematologist, St Damien's Pediatric Hospital

J Martin Johnston, MD is a member of the following medical societies: American Academy of Pediatrics, American Society of Pediatric Hematology/Oncology, International Society of Paediatric Oncology

Disclosure: Nothing to disclose.

References
  1. Delaunay J. The molecular basis of hereditary red cell membrane disorders. Blood Rev. 2006 May 25. [Medline].

  2. Lock SP, Smith RS, Hardisty RM. Stomatocytosis: a hereditary red cell anomally associated with haemolytic anaemia. Br J Haematol. 1961 Jul. 7:303-14. [Medline].

  3. Bruce LJ, Robinson HC, Guizouarn H, et al. Monovalent cation leaks in human red cells caused by single amino-acid substitutions in the transport domain of the band 3 chloride-bicarbonate exchanger, AE1. Nat Genet. 2005 Nov. 37(11):1258-63. [Medline].

  4. Iolascon A, Stewart GW, Ajetunmobi JF, et al. Familial pseudohyperkalemia maps to the same locus as dehydrated hereditary stomatocytosis (hereditary xerocytosis). Blood. 1999 May 1. 93(9):3120-3. [Medline]. [Full Text].

  5. Bruce LJ, Guizouarn H, Burton NM, et al. The monovalent cation leak in overhydrated stomatocytic red blood cells results from amino acid substitutions in the Rh-associated glycoprotein. Blood. 2009 Feb 5. 113(6):1350-7. [Medline].

  6. Shmukler BE, Rivera A, Vandorpe DH, Alves J, Bonfanti U, Paltrinieri S. Cation-leak stomatocytosis in Standard Schnauzers does not cosegregate with coding mutations in the RhAG, SLC4A1, or GLUT1 genes associated with human disease. Blood Cells Mol Dis. 2012 Mar 9. [Medline].

  7. Fricke B, Parsons SF, Knopfle G, et al. Stomatin is mis-trafficked in the erythrocytes of overhydrated hereditary stomatocytosis, and is absent from normal primitive yolk sac-derived erythrocytes. Br J Haematol. 2005 Oct. 131(2):265-77. [Medline].

  8. Stewart GW, Corrall RJ, Fyffe JA, et al. Familial pseudohyperkalaemia. A new syndrome. Lancet. 1979 Jul 28. 2(8135):175-7. [Medline].

  9. Gore DM, Layton M, Sinha AK, et al. Four pedigrees of the cation-leaky hereditary stomatocytosis class presenting with pseudohyperkalaemia. Novel profile of temperature dependence of Na+-K+ leak in a xerocytic form. Br J Haematol. 2004 May. 125(4):521-7. [Medline].

  10. Guizouarn H, Martial S, Gabillat N, Borgese F. Point mutations involved in red cell stomatocytosis convert the electroneutral anion exchanger 1 to a nonselective cation conductance. Blood. 2007 Sep 15. 110(6):2158-65. [Medline].

  11. King MJ, Zanella A. Hereditary red cell membrane disorders and laboratory diagnostic testing. Int J Lab Hematol. 2013 Jun. 35(3):237-43. [Medline].

  12. Stewart GW. Hemolytic disease due to membrane ion channel disorders. Curr Opin Hematol. 2004 Jul. 11(4):244-50. [Medline].

  13. Carella M, Stewart G, Ajetunmobi JF, et al. Genomewide search for dehydrated hereditary stomatocytosis (hereditary xerocytosis): mapping of locus to chromosome 16 (16q23-qter). Am J Hum Genet. 1998 Sep. 63(3):810-6. [Medline].

  14. Beaurain G, Mathieu F, Grootenboer S, Fiquet B, Cynober T, Tchernia G. Dehydrated hereditary stomatocytosis mimicking familial hyperkalaemic hypertension: clinical and genetic investigation. Eur J Haematol. 2007 Mar. 78(3):253-9. [Medline].

  15. Entezami M, Becker R, Menssen HD, et al. Xerocytosis with concomitant intrauterine ascites: first description and therapeutic approach. Blood. 1996 Jun 15. 87(12):5392-3. [Medline]. [Full Text].

  16. Grootenboer-Mignot S, Cretien A, Laurendeau I, et al. Sub-lethal hydrops as a manifestation of dehydrated hereditary stomatocytosis in two consecutive pregnancies. Prenat Diagn. 2003 May. 23(5):380-4. [Medline].

  17. Rees DC, Portmann B, Ball C, et al. Dehydrated hereditary stomatocytosis is associated with neonatal hepatitis. Br J Haematol. 2004 Jul. 126(2):272-6. [Medline].

  18. Syfuss PY, Ciupea A, Brahimi S, et al. Mild dehydrated hereditary stomatocytosis revealed by marked hepatosiderosis. Clin Lab Haematol. 2006 Aug. 28(4):270-4. [Medline].

  19. King MJ, Zanella A. Response to a letter from A. Huisman and R. van Wijk (Ektacytometry and Genetic Testing in Hereditary Red Cell Membrane Disorders). Int J Lab Hematol. 2013 Sep 6. [Medline].

  20. Sanchez M, Palacio M, Borrell A, Carmona F, Cobo T, Coll O. Prenatal diagnosis and management of fetal xerocytosis associated with ascites. Fetal Diagn Ther. 2005 Sep-Oct. 20(5):402-5. [Medline].

  21. Stewart GW, Amess JA, Eber SW, et al. Thrombo-embolic disease after splenectomy for hereditary stomatocytosis. Br J Haematol. 1996 May. 93(2):303-10. [Medline].

  22. Perel Y, Dhermy D, Carrere A, et al. Portal vein thrombosis after splenectomy for hereditary stomatocytosis in childhood. Eur J Pediatr. 1999. August:158(8):628-630. [Medline].

  23. Jais X, Till SJ, Cynober T, et al. An extreme consequence of splenectomy in dehydrated hereditary stomatocytosis: gradual thrombo-embolic pulmonary hypertension and lung-heart transplantation. Hemoglobin. 2003 Aug. 27(3):139-47. [Medline].

  24. Mabin DC, Chowdhury V. Aplastic crisis caused by human parvovirus in two patients with hereditary stomatocytosis. Br J Haematol. 1990. Sep;76(1):153-154. [Medline].

Previous
Next
 
Hereditary stomatocytosis. Courtesy of Jean A. Shafer, BS, MA, Assistant Professor of Hematology and Pathology at the University of Rochester School of Medicine and Dentistry.
 
 
 
All material on this website is protected by copyright, Copyright © 1994-2016 by WebMD LLC. This website also contains material copyrighted by 3rd parties.