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Disease Information for Elliptocytosis, hereditary

Clinical Manifestations

Disease Progression

Course/Benign course/disorder

Course/Chronic disorder

Course/Chronic only

Demographics & Risk Factors

Population Group

Child

Population/Pediatrics population

Sex & Age Groups

Population/Child

Population/Children/all

Laboratory Tests

Microbiology & Serology Findings

Reticulocytosis

Microbiology & Serology Findings

Reticulocytosis

Abnormal Lab Findings (Non Measured)

Differential blood smear/morphology abnormal

Indirect bilirubin inc/normal direct bil. (Lab)

Normocytic anemia

Normocytic/Normochromic Anemia (Lab)

Abnormal Lab Findings - Decreased

Hematocrit (Lab)

Hemoglobin (Lab)

RBC/Red Blood Count (Lab)

Reticulocytes (Lab)

Abnormal Lab Findings - Increased

Elliptocytes (Lab)

Free hemoglobin, plasma (Lab)

Indirect bilirubin (Lab)

Lactic Dehydrogenase (LDH LH) (Lab)

Osmotic fragility, RBC (Lab)

Polychrome RBCs (Lab)

Reticulocytes (Lab)

Associated Diseases & Rule outs

Associated Disease & Complications

Anemia

Hemolytic anemia, congenital

Disease Mechanism & Classification

Class

CLASS/Pediatric disorders (ex)

CLASS/Erythrocyte disorder (ex)

CLASS/Hematologic (category)

Pathophysiology

Pathophysiology/Genomic indentifiers (polymorphism/snip/mutations)

Pathophysiology/Hemolytic process/effect

Process

PROCESS/Hereditofamilial (category)

Synonyms

Synonym

Congenital elliptocytosis, Congenital elliptocytosis (disorder), Congenital ovalocytosis, disease (or disorder) hemoglobin or Hb elliptocytosis, Elliptocytoses Hereditary, Elliptocytosis, Elliptocytosis hereditary, erythrocytosis oval, HE, HE Hereditary elliptocytosis, Hereditary eliptocytosis, Hereditary Elliptocytoses, Hereditary elliptocytosis, Hereditary elliptocytosis (disorder), Hereditary Ovalocytoses, Hereditary Ovalocytosis, oval erythrocytosis, Ovalocytoses Hereditary, ovalocytosis, Ovalocytosis Hereditary, Synonym/Dresbach's syndrome, Synonym/Ovalocytosis, hereditary

Definition

An intrinsic defect of erythrocytes inherited as an autosomal dominant trait. The erythrocytes assume an oval or elliptical shape.

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External Links Related to Elliptocytosis, hereditary

PubMed (National Library of Medicine)

NGC (National Guideline Clearinghouse)

Medscape (eMedicine)

Harrison's Online (accessmedicine)

NEJM (The New England Journal of Medicine)

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