Disease Information for RBC membrane enzyme defects

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Clinical Manifestations
Disease Progression
Course/Chronic disorder
Course/Chronic only
Demographics & Risk Factors
Population Group
Child
Population/Pediatrics population
Family History
Family history/Anemia
Sex & Age Groups
Population/Child
Population/Child-Infant Only
Population/Children/all
Laboratory Tests
Microbiology & Serology Findings
Microlab/Blood smear Geimsa stain /abnormal
Abnormal Lab Findings (Non Measured)
Enzyme Assay plasma/tissue/fibroblast abnormal
Normocytic anemia
Normocytic/Normochromic Anemia (Lab)
RBC Specific Enzyme assay abnormal (Lab)
Abnormal Lab Findings - Decreased
Hematocrit (Lab)
Hemoglobin (Lab)
RBC/Red Blood Count (Lab)
Abnormal Lab Findings - Increased
Bilirubin, serum (Lab)
Indirect bilirubin (Lab)
Associated Diseases & Rule outs
Rule Outs
Anemia
Hemolytic anemia/autoimmune
Paroxysmal cold hemoglobinuria
Paroxysmal nocturnal hemoglobinuria
Associated Disease & Complications
Bilirubinemia
Hereditary non-spherocytic hemolytic anemia
RBC Membrane enzyme defects
Disease Mechanism & Classification
Class
CLASS/Pediatric disorders (ex)
CLASS/Erythrocyte disorder (ex)
CLASS/Hematologic (category)
CLASS/Intrinsic RBC abnormality (ex)
Pathophysiology
Pathophysiology/Genomic indentifiers (polymorphism/snip/mutations)
Pathophysiology/Erythrocyte membrane disorder
Pathophysiology/Hemolytic process/effect
Pathophysiology/RBC Hexose-monophosphate shunt (ex)
Process
PROCESS/Enzyme defect/Metabolic disorder (ex)
PROCESS/Hereditofamilial (category)
PROCESS/Metabolic/storage disorder (category)
Definition
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External Links Related to RBC membrane enzyme defects
Google
Wikipedia
Merck
Images
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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