eMedicine Specialties > Hematology > Uncommon RBC Membrane Disorders
Elliptocytosis, Hereditary: Follow-up
Updated: May 24, 2006
Follow-up
Prognosis
- Most patients with hereditary elliptocytosis (HE) are asymptomatic.
- Even those with clinically significant hemolysis have an excellent prognosis after splenectomy.
Patient Education
- Patients should be informed about the autosomal dominant inheritance of the major types of HE.
- In addition, despite the asymptomatic nature of the disease, family members can be encouraged to be screened for HE.
Miscellaneous
Medicolegal Pitfalls
- Failure to diagnose the disease in a patient with clinically significant hemolysis can be the greatest pitfall. Simple peripheral smear in the appropriate clinical setting, along with thorough history taking and physical examination, can guide the clinician in the right direction.
- In the converse, attributing hemolysis to HE, when the patient has a de novo hemolytic process superimposed on a chronic, clinically insignificant HE state, is another pitfall.
More on Elliptocytosis, Hereditary |
| Overview: Elliptocytosis, Hereditary |
| Differential Diagnoses & Workup: Elliptocytosis, Hereditary |
| Treatment & Medication: Elliptocytosis, Hereditary |
Follow-up: Elliptocytosis, Hereditary |
| References |
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References
Delaunay J. Genetic disorders of the red cell membrane. Crit Rev Oncol Hematol. Jun 1995;19(2):79-110. [Medline].
Delaunay J. Molecular basis of red cell membrane disorders. Acta Haematol. 2002;108(4):210-8. [Medline].
Gallagher PG, Romana M, Wong C, Forget BG. Genetic basis of the polymorphisms of the alphaI domain of spectrin. Am J Hematol. Oct 1997;56(2):107-11. [Medline].
Gallagher PG. Hereditary elliptocytosis: spectrin and protein 4.1R. Semin Hematol. Apr 2004;41(2):142-64.
Nicolas G, Pedroni S, Fournier C, et al. Spectrin self-association site: characterization and study of beta- spectrin mutations associated with hereditary elliptocytosis. Biochem J. May 15 1998;332(pt 1):81-9. [Medline].
Palek J, Jarolim P. Clinical expression and laboratory detection of red blood cell membrane protein mutations. Semin Hematol. Oct 1993;30(4):249-83. [Medline].
Silveira P, Cynober T, Dhermy D, et al. Red blood cell abnormalities in hereditary elliptocytosis and their relevance to variable clinical expression. Am J Clin Pathol. Oct 1997;108(4):391-9. [Medline].
Further Reading
Keywords
hereditary elliptocytosis, HE, elliptical red cells, Southeast Asian ovalocytosis, SAO, hereditary pyropoikilocytosis, HPP, elliptocytes, hemolytic anemia, folate deficiency, splenectomy
Follow-up: Elliptocytosis, Hereditary