Disease Information for Anemia, congenital aplastic

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Clinical Manifestations
Signs & Symptoms
Pallor/newborn
Anemia symptoms/chronic
Fatigue Tiredness in Children
Fever in kids
Mucous membrane pallor
Pallor
Conjunctival pallor
Clinical Presentation & Variations
Anemia in Children
PVT/Anemia in an Infant
Anemia with Low Reticulocyte Count
Demographics & Risk Factors
Population Group
Child
Infant
Population/Pediatrics population
Family History
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)
Normocytic anemia
Normocytic anemia/low retic count
Normocytic/Normochromic Anemia (Lab)
Abnormal Lab Findings - Decreased
Erythroblasts on peripheral blood smear (Lab)
Hematocrit (Lab)
Hemoglobin (Lab)
Nucleated red blood cells/Normoblasts (Lab)
RBC/Red Blood Count (Lab)
Reticulocytes (Lab)
Diagnostic Test Results
Other Tests & Procedures
Bone Marrow/Absent Erythroblasts
Associated Diseases & Rule outs
Rule Outs
Myelodysplasia
Transient Erythroblastopenia Childhood (TEC)
Associated Disease & Complications
Acute leukemia
Anemia
Anemia in a Baby/Young child
Anemia, aplastic
Congenital/Neonatal Anemia
Leukemia
Thrombocytopenia
Thrombocytopenia in Children
Anemic Year Old Child/Baby
Disease Synergy - Causes
Synergy/Parvovirus B19 marrow/effect
Disease Mechanism & Classification
Class
CLASS/Pediatric disorders (ex)
CLASS/Erythrocyte disorder (ex)
CLASS/Hematologic (category)
Pathophysiology
Pathophysiology/Genomic indentifiers (polymorphism/snip/mutations)
Pathophysiology/Ineffective erythropoesis
Process
PROCESS/Dysplasia/aplasia (ex)
Synonyms
Synonym
anemia aplastic congenital, anemia aplastic constitutional, aplastic anemia congenital, aplastic anemia constitutional, Congenital aplastic anaemia, Congenital aplastic anemia, Constitut aplastic anaemia, Constitut aplastic anemia, Constitutional aplastic anaem, Constitutional aplastic anaemia, Constitutional aplastic anemia, Constitutional aplastic anemia (disorder), Constitutional aplastic anemia (dup) (disorder), Familial hypoplastic anaemia, Familial hypoplastic anemia, Hypoplastic anaemia familial, Hypoplastic anemia familial, Synonym/Blackfan-Diamond (BDA)syndrome, Synonym/Blackfan-Diamond anemia
Treatment
Drug Therapy - Indication
RX/Blood transfusion/packed cells
RX/Corticosteroid (Cortisone)
SX/Bone marrow transplant
SX/Stem cell transplant/allogenic
SX/Stem-cell transplant
Definition

Anemia, Blackfan Diamond; Anemia, Congenital Pure Red Cell

Aplasia, Congenital Pure Red Cell; Chronic Congenital Aregenerative Anemia; Constitutional Erythroid Hypoplasia;

DBA; DBS; Diamond-Blackfan Anemia; Erythrogenesis Imperfecta ; Estren-Dameshek variant of Fanconi Anemia;

Hypoplastic Congenital Anemia; Blackfan-Diamond Anemia is a rare blood disorder of unknown cause characterized by deficiency of red blood cells at birth (congenital hypoplastic anemia) and various other symptoms and findings including slow growth, abnormal weakness and fatigue, paleness of the skin, characteristic facial abnormalities, protruding shoulder blades (scapulae), webbing or abnormal shortening of the neck due to fusion of certain bones in the spine (cervical vertebrae), hand deformities, congenital heart defects, and/or other abnormalities; The symptoms and physical findings associated with Blackfan-Diamond Anemia vary greatly from case to case; A consistent "pattern" of symptoms and physical findings has not been identified; Blackfan-Diamond Anemia may be inherited as either an autosomal dominant or recessive genetic trait----------[NORD 2005]----------------

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External Links Related to Anemia, congenital aplastic
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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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