Disease Information for Hereditary sideroblastic anemia

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Clinical Manifestations
Clinical Presentation & Variations
Anemia in Children
PVT/Anemia in an Infant
Disease Progression
Course/Chronic disorder
Course/Chronic only
Demographics & Risk Factors
Past History
Past history/Refractory anemia
Population Group
Child
Infant
Population/Pediatrics population
Family History
Family history/Anemia
Family history/Blood disease
Sex & Age Groups
Population/Child
Population/Child-Infant Only
Population/Children/all
Population/Infant
Laboratory Tests
Microbiology & Serology Findings
Reticulocytosis
Abnormal Lab Findings (Non Measured)
Cytogenetics Abnormal
Flow cytometry tests/abnormal (Lab)
Free erythrocyte protoporphrin/FEE test positive (Lab)
Microcytes/small RBCs on Blood smear
Microcytosis/microcytic anemia (Lab)
RBC/Pappenheimer Bodies Smear
Abnormal Lab Findings - Decreased
Hematocrit (Lab)
Hemoglobin (Lab)
MCV/Mean Corpuscular Volume (Lab)
RBC/Red Blood Count (Lab)
Reticulocytes (Lab)
Abnormal Lab Findings - Increased
Protoporphyrin RBC (Lab)
Protoporphyrin (Lab)
Siderocytes (Lab)
Zinc Protoporphyrin/RBC (Lab)
Diagnostic Test Results
Pathology
Bone marrow/Ringed sideroblasts/Fe stain
Associated Diseases & Rule outs
Rule Outs
Hemochromatosis
Iron deficiency anemia
Associated Disease & Complications
Anemia
Megaloblastic anemia/disease
Sideroblastic Anemia Sideroachrestic
Iron Overload
Disease Mechanism & Classification
Class
CLASS/Pediatric disorders (ex)
CLASS/Erythrocyte disorder (ex)
CLASS/Hematologic (category)
Pathophysiology
Pathophysiology/Bimodal RBC size distribution
Pathophysiology/Gene locus Chromosome X.
Pathophysiology/Gene Locus Identified/OMIM database
Pathophysiology/Gene locus Xp11.21
Pathophysiology/Genomic indentifiers (polymorphism/snip/mutations)
Pathophysiology/Hereditary disease/Adult manifestations
Process
PROCESS/Hereditofamilial (category)
Definition

Sideroblastic: Acquired Sideroblastic Anemia; Hereditary Sideroblastic Anemia; Idiopathic Sideroblastic Anemia;

The sideroblastic anemias are a group of blood disorders in which the body has enough iron but is unable to use it to make hemoglobin, which carries oxygen in the blood; As a result, iron accumulates in the mitochondria of red blood cells, giving a ringed appearance to the nucleus (ringed sideroblast); There are three categories of sideroblastic anemias: inherited, acquired, and idiopathic (of unknown origin); The signs and symptoms can range from mild to severe, and include fatigue, breathing difficulties, and weakness; Enlargement of the liver or spleen may also occur; In severe cases, the increased levels of iron in the blood may lead to heart disease, liver damage, and kidney failure----------------------[nord 2005]----------------

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External Links Related to Hereditary sideroblastic anemia
Google
Wikipedia
Merck
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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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