Disease Information for Hemoglobinopathy

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Clinical Manifestations
Signs & Symptoms
Blue lips
Cyanosis
Monoarticular Arthritis/One joint acute
Dark urine
Splenomegaly
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
Amniocentesis/Kleinhauer Boetke Stain/Fetal RBC
Abnormal Lab Findings (Non Measured)
Bite cells/RBC (Lab)
Blister cells/RBC (Lab)
Flow Cytometry/Fetal Cells Maternal High
Heinz bodies RBC (Lab)
Heinz Body Prep/RBCs Positive
Hemoglobin electrophoresis abnormal (Lab)
Microcytes/small RBCs on Blood smear
Microcytosis/microcytic anemia (Lab)
Abnormal Lab Findings - Decreased
Hematocrit (Lab)
Hemoglobin (Lab)
MCV/Mean Corpuscular Volume (Lab)
RBC/Red Blood Count (Lab)
Abnormal Lab Findings - Increased
Bilirubin, serum (Lab)
Fetal hemoglobin (Lab)
Indirect bilirubin (Lab)
Target cells (Lab)
Associated Diseases & Rule outs
Rule Outs
Paroxysmal nocturnal hemoglobinuria
Polycythemia vera
Associated Disease & Complications
Bilirubinemia
Bone necrosis/infarct/osteonecrosis
Eales disease/recurrent retinal phlebitis
Hemolytic anemia, congenital
Osteomyelitis
Monoarthritis Acute
Disease Mechanism & Classification
Class
CLASS/Erythrocyte disorder (ex)
CLASS/Hematologic (category)
Pathophysiology
Pathophysiology/Genomic indentifiers (polymorphism/snip/mutations)
Pathophysiology/Ineffective erythropoesis
Pathophysiology/Non-immune hemolytic anemia
Process
PROCESS/Hereditofamilial (category)
PROCESS/Hemoglobinopathy disorder (ex)
PROCESS/Molecular/hematologic disorder (ex)
Treatment
Drug Therapy - Indication
SX/Stem cell transplant/allogenic
Definition

A group of inherited disorders characterized by structural alterations within the hemoglobin molecule.

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External Links Related to Hemoglobinopathy
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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