Disease Information for Anemia, hereditary hemolytic,nonspher'c

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Clinical Manifestations
Signs & Symptoms
Anemia symptoms/chronic
Splenomegaly
Pallor
Clinical Presentation & Variations
Anemia in Children
PVT/Anemia in an Infant
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
Reticulocytosis
Abnormal Lab Findings (Non Measured)
Normocytic anemia
Normocytic Anemia/High Retic count
Normocytic/Normochromic Anemia (Lab)
Abnormal Lab Findings - Decreased
Folic acid/Folate (Lab)
Hematocrit (Lab)
Hemoglobin (Lab)
RBC/Red Blood Count (Lab)
Abnormal Lab Findings - Increased
Bilirubin, serum (Lab)
Indirect bilirubin (Lab)
Lactic Dehydrogenase (LDH LH) (Lab)
Polychrome RBCs (Lab)
Reticulocytes (Lab)
URINE Hemoglobin
Diagnostic Test Results
Pathology
Bone Marrow/Erythroid hyperplasia
Bone Marrow/Hypercellular
Isotope Scan
Isotope/RBC Spleen Sequestration
Associated Diseases & Rule outs
Rule Outs
Hemolytic anemia/autoimmune
Associated Disease & Complications
Anemia
Anemia in a Baby/Young child
Bilirubinemia
Brisk Hemolysis/Active
Congenital/Neonatal Anemia
Hemoglobinuria
Hemolysis anemia/acute/active
Kernicterus
Neonatal hyperbilirubinemia
Anemic Year Old Child/Baby
Disease Mechanism & Classification
Class
CLASS/Pediatric disorders (ex)
CLASS/Erythrocyte disorder (ex)
CLASS/Hematologic (category)
Pathophysiology
Pathophysiology/Genomic indentifiers (polymorphism/snip/mutations)
Pathophysiology/Hemolysis
Pathophysiology/Hemolytic process/effect
Process
PROCESS/Hereditofamilial (category)
Definition

Hereditary Nonspherocytic Hemolytic

HNHA

NSA

Disorder Subdivisions

General Discussion

Hereditary Nonspherocytic Hemolytic Anemia is a term used to describe a group of rare genetic blood disorders characterized by defective red blood cells (erythrocytes) that are not abnormally "sphere-shaped" (spherocytes). These disorders are thought to be caused by defects in the membranes of red blood cells, abnormal metabolism of a chemical contained in hemoglobin (porphyrin), and deficiencies in certain enzymes such as glucose-6-phosphate dehydrogenase (G6PD) or pyruvate kinase. There are approximately 16 red blood cell enzyme abnormalities that may cause Hereditary Nonspherocytic Hemolytic Anemia.

Glucose-6-Phosphate Dehydrogenase Deficiency is one of the most common inherited enzyme abnormalities in humans. There are close to 300 different varieties of enzymatic disorders that have been classified into 5 main groups according to their relationship to red blood cells and the premature destruction of red blood cells (hemolysis). Generally people with Hereditary Nonspherocytic Hemolytic Anemia who also have a glucose-6-phosphate dehydrogenase deficiency have inherited an uncommon variant of this enzyme deficiency characterized by decreased enzyme activity, extremely abnormal kinetics, and reduced heat stability. These factors could account for the defective function of glucose-6-phosphate dehydrogenase [NORD 2005]

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External Links Related to Anemia, hereditary hemolytic,nonspher'c
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Harrison's Online (accessmedicine)
NEJM (The New England Journal of Medicine)
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