Hereditary elliptocytosis laboratory findings

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief: Niyousha Danesh M.D., M.P.H

Overview

Complete blood cell count and peripheral blood smear (blood film) is essential diagnostic tool. When a patient has family history of hemolytic anemia but the results of direct antiglobulin test is negative PBS could help to diagnose hereditary elliptocytosis. Osmotic fragility tests and eosin 5 maleimide (EMA)binding are another screening tests for detecting red cell membrane defects.

Laboratory findings consistent with the diagnosis of hereditary elliptocytosis include evidences of hemolysis such as high concentrations of indirect bilirubin and LDH, decreased haptoglobin levels; an elevated reticulocyte count and immature reticulocyte fraction.

Coombs test or direct antiglobulin test and Potassium should also be measured.[1]

Laboratory Findings

Initial lab tests include
CBC
PBS
Bilirubin
LDH
Retic count
Haptoglobin
K+
Direct Coombs
  • Laboratory findings consistent with the diagnosis of hereditary elliptocytosis include evidences of hemolysis such as high concentrations of indirect bilirubin and LDH, decreased haptoglobin levels; an elevated reticulocyte count and immature reticulocyte fraction.
  • Coombs test or direct antiglobulin test and Potassium should also be measured.
  • There is no association between the severity of hemolysis and the amount of elliptocytes.
  • Approximately 25% elliptocytesis is observed in peripheral blood smears of patients with HE, these elliptocytes are cigar-shaped and their quantity varies in different HE forms.
  • Patients with typical HE, which is the most subtype of HE are generally asymptomatic.  Typical HE or mild HE is diagnosed for the first time on abnormal laboratory results. Patients may do not manifest anemia despite of obvious elliptocytosis in peripheral smear (PBS) .Osmotic fragility test results are within reference ranges in these patients.
  • The silent carrier HE patients are asymptomatic, do not present anemia and they have normal peripheral smear. This state is diagnosed only by membrane cytoskeletal properties defects on lab results and pedigree analysis.
  • Microscopic examination of peripheral smear in patients with Hereditary pyropoikilocytosis (HPP) reveals dominancy of spherocytes and microspherocytes., although the elliptocytes can also be observed. As opposed to normal RBCs, which could tolerate temperatures lower than 49°C, RBCs of patients with HPP denature at 45-46°C in thermal stability test.
  • Although patients with Spherocytic elliptocytosis do not have poikilocytes, but  pherocytes and elliptocytes can be observed on their peripheral blood smear.[2]
  • Moreover patients with HPP or spherocytic HE have elevation in osmotic fragility test results.
  • On PBS of patients with Southeast Asian ovalocytosis or stomatocytic elliptocytosis have special round elliptocytes bisected by transverse slits of hemoglobin across their body. As opposed to other types of HE ,This specific membrane structure of oval shaped RBCs have made them strictly stable.[3]

References

  1. Barcellini W, Bianchi P, Fermo E, Imperiali FG, Marcello AP, Vercellati C; et al. (2011). "Hereditary red cell membrane defects: diagnostic and clinical aspects". Blood Transfus. 9 (3): 274–7. doi:10.2450/2011.0086-10. PMC 3136593. PMID 21251470.
  2. Da Costa L, Suner L, Galimand J, Bonnel A, Pascreau T, Couque N; et al. (2016). "Diagnostic tool for red blood cell membrane disorders: Assessment of a new generation ektacytometer". Blood Cells Mol Dis. 56 (1): 9–22. doi:10.1016/j.bcmd.2015.09.001. PMC 4811191. PMID 26603718.
  3. King MJ, Garçon L, Hoyer JD, Iolascon A, Picard V, Stewart G; et al. (2015). "ICSH guidelines for the laboratory diagnosis of nonimmune hereditary red cell membrane disorders". Int J Lab Hematol. 37 (3): 304–25. doi:10.1111/ijlh.12335. PMID 25790109.

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