Disease Information for Thalassemia-hemoglobin C disease

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Clinical Manifestations
Signs & Symptoms
Cyanosis
Cyanosis Newborn
Short stature
Short stature Child
Clinical Presentation & Variations
Anemia in Children
PVT/Anemia in an Infant
Disease Progression
Course/Chronic disorder
Course/Chronic only
Demographics & Risk Factors
Ethnic or Racial Factors
Mediterranean racial stock/population
Past History
Past history/Anemia
Past history/Refractory anemia
Population Group
Child
Population/Pediatrics population
Family History
Family history/Anemia
Family history/Blood disease
Sex & Age Groups
Population/Child
Population/Child-Infant Only
Population/Children/all
Laboratory Tests
Microbiology & Serology Findings
Reticulocytosis
Microbiology & Serology Findings
Reticulocytosis
Abnormal Lab Findings (Non Measured)
Chorionic Villous Sampling Abnormalities
Bite cells/RBC (Lab)
Blister cells/RBC (Lab)
Heinz bodies RBC (Lab)
Heinz Body Prep/RBCs Positive
Hemoglobin electrophoresis abnormal (Lab)
Howell Jolly bodies/rbcs (Lab)
Microcytes/small RBCs on Blood smear
Microcytosis/microcytic anemia (Lab)
Normocytic anemia
Normocytic Anemia/High Retic count
Normocytic/Normochromic Anemia (Lab)
Abnormal Lab Findings - Decreased
Hematocrit (Lab)
Hemoglobin (Lab)
MCV/Mean Corpuscular Volume (Lab)
MCV/RBC Ratio (Mentzer Index)
RBC/Red Blood Count (Lab)
Reticulocytes (Lab)
Abnormal Lab Findings - Increased
Bilirubin, serum (Lab)
Fetal hemoglobin (Lab)
Indirect bilirubin (Lab)
Iron, serum (Lab)
Polychrome RBCs (Lab)
RDW/Red cell size variance (Lab)
Reticulocytes (Lab)
URINE Hemosiderin
Diagnostic Test Results
Other Tests & Procedures
Amniocentesis/Abnormality
Pathology
Bone Marrow/Iron stores normal/anemia
Bone Marrow/Iron stores/increased
X-RAY
Xray/Skull abnormality
Associated Diseases & Rule outs
Rule Outs
Iron deficiency anemia
Paroxysmal cold hemoglobinuria
Sideroblastic Anemia Sideroachrestic
Associated Disease & Complications
Anemia
Anemia, severe
Bilirubinemia
Extramedullary marrow/paraspinal hematopoetic tumor
Folic acid deficiency anemia
Hemolytic anemia, congenital
Kernicterus
Neonatal hyperbilirubinemia
Priapism/persistent erection
Iron Overload
Disease Mechanism & Classification
Class
CLASS/Erythrocyte disorder (ex)
CLASS/Hematologic (category)
Pathophysiology
Pathophysiology/Genomic indentifiers (polymorphism/snip/mutations)
Pathophysiology/Non-immune hemolytic anemia
Process
PROCESS/Hereditofamilial (category)
PROCESS/Hemoglobinopathy disorder (ex)
PROCESS/Molecular/hematologic disorder (ex)
Treatment
Other Treatments
TX/Genetic counselling
Definition

Blood, 1954, Vol; 9, No; 11, pp; 1047-1054; © 1954 American Society of Hematology, Inc; Thalassemia—Hemoglobin C Disease A New Syndrome Presumably due to the Combination of the Genes for Thalassemia and Hemoglobin C WOLF W; ZUELZER 1 and EUGENE KAPLAN 1 1 The Children’s Hospital of Michigan, The Child Research Center, and Wayne University College of Medicine, Department of Pediatrics, Detroit, Michigan; An unusual type of severe chronic hypochromic microcytic anemia in a Negro is described and attributed to the interaction of the hemoglobin C gene with the thalassemia gene; The patient and his father were shown to be carriers of the C trait, the mother and several siblings of the thalassemia gene; Submitted on February 5, 1954-----------------------------[nih/nlm]---------------------

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External Links Related to Thalassemia-hemoglobin C disease
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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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