Diagnostic Considerations

Hereditary elliptocytosis (HE) must be differentiated from hereditary spherocytosis (HS), which is the most common red blood cell (RBC) membranopathy. HS is characterized by the presence of spherical-shaped RBCs on peripheral blood smears and most commonly has autosomal dominant inheritance. SPTB mutations identified in HE affect the tetramerization domain but in HS the mutation effects are distributed between the actin-binding domain and spectrin repeats.^[12]

Differential Diagnoses

Glucose-6-Phosphate Dehydrogenase (G6PD) Deficiency
Hereditary Spherocytosis
Iron Deficiency Anemia
Megaloblastic Anemia
Myelodysplastic Syndrome (MDS)
Myeloproliferative Disease
Pyruvate Kinase Deficiency
Sickle Cell Disease (SCD)

Workup

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Llaudet-Planas E, Vives-Corrons JL, Rizzuto V, Gómez-Ramírez P, Sevilla Navarro J, Coll Sibina MT, et al. Osmotic gradient ektacytometry: A valuable screening test for hereditary spherocytosis and other red blood cell membrane disorders. Int J Lab Hematol. 2018 Feb. 40 (1):94-102. [QxMD MEDLINE Link]. [Full Text].
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Media Gallery

Hereditary elliptocytosis: Peripheral blood smear reveals cigar-shaped erythrocytes (elliptocytes). Courtesy of Jean A. Shafer, BS, MA, Assistant Professor of Hematology and Pathology at the University of Rochester School of Medicine and Dentistry.
Bizarre RBC morphology seen in hereditary pyropoikilocytosis. Courtesy of Jean A. Shafer, BS, MA, Assistant Professor of Hematology and Pathology at the University of Rochester School of Medicine and Dentistry.

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Table 1. RBC Membrane Disorders^[6, 2]

Table 1. RBC Membrane Disorders ^{[6, 2]}

Phenotype	Gene	Inheritance
Disorders with RBC membrane structural defect
HE Type 1	EPB41	AD
HE Type 2	SPTA1	AD
HE Type 3	SPTB	AD
HPP	SPTA1	AR
SAO	SLC4A1	AD
HS Type 1	ANK1	AD/AR
HS Type 2	SPTB	AD
HS Type 3	SPTA1	AR
HS Type 4	SLC4A1	AD
HS Type 5	EPB42	AR
Disorders with altered RBC membrane permeability
DHS 1	PIEZO1	AD
DHS 2	KCNN4	AD
OHS	RHAG	AD
CHC	ABCB6	AD
FP	SLC4A1	AD
AD: autosomal dominant; AR: autosomal recessive; CHC: cryohydrocytosis; DHS: dehydrated hereditary stomatocytosis; FP: familial pseudohyperkalemia; HE: hereditary elliptocytosis; HPP: hereditary pyropoikilocytosis; HS: hereditary spherocytosis; OHS: overhydrated hereditary stomatocytosis; SAO: Southeast Asian ovalocytosis

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Author

Daniel J Kim, MD, MS Staff Physician, Department of Medicine, Olive View-UCLA Medical Center

Daniel J Kim, MD, MS is a member of the following medical societies: American College of Physicians-American Society of Internal Medicine, American Medical Association, American Society of Hematology, California Medical Association, Christian Medical and Dental Associations, American Society of Clinical Oncology

Disclosure: Nothing to disclose.

Specialty Editor Board

Francisco Talavera, PharmD, PhD Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Received salary from Medscape for employment. for: Medscape.

Marcel E Conrad, MD Distinguished Professor of Medicine (Retired), University of South Alabama College of Medicine

Marcel E Conrad, MD is a member of the following medical societies: Alpha Omega Alpha, American Association for the Advancement of Science, American Association of Blood Banks, American Chemical Society, American College of Physicians, American Physiological Society, American Society for Clinical Investigation, American Society of Hematology, Association of American Physicians, The Society of Federal Health Professionals (AMSUS), International Society of Hematology, Society for Experimental Biology and Medicine, SWOG

Disclosure: Partner received none from No financial interests for none.

Chief Editor

Emmanuel C Besa, MD Professor Emeritus, Department of Medicine, Division of Hematologic Malignancies and Hematopoietic Stem Cell Transplantation, Kimmel Cancer Center, Jefferson Medical College of Thomas Jefferson University

Emmanuel C Besa, MD is a member of the following medical societies: American Association for Cancer Education, American Society of Clinical Oncology, American College of Clinical Pharmacology, American Federation for Medical Research, American Society of Hematology, New York Academy of Sciences

Disclosure: Nothing to disclose.

Additional Contributors

Karen Seiter, MD Professor, Department of Internal Medicine, Division of Oncology/Hematology, New York Medical College

Karen Seiter, MD is a member of the following medical societies: American Association for Cancer Research, American College of Physicians, American Society of Hematology

Disclosure: Received honoraria from Novartis for speaking and teaching; Received consulting fee from Novartis for speaking and teaching; Received honoraria from Celgene for speaking and teaching.

Acknowledgements

Leland D Powell, MD, PhD Associate Clinical Professor of Medicine, David Geffen School of Medicine at UCLA; Consulting Staff, Department of Medicine, Olive View-UCLA Medical Center

Disclosure: Nothing to disclose.

Hereditary Elliptocytosis Differential Diagnoses

Diagnostic Considerations

Differential Diagnoses

References

Tables

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