Disease Information for Hemoglobin E thalassemia

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Clinical Manifestations
Clinical Presentation & Variations
Anemia in Children
Disease Progression
Course/Chronic disorder
Course/Chronic only
Demographics & Risk Factors
Past History
Past history/Anemia
Past history/Refractory anemia
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
Abnormal Lab Findings (Non Measured)
Hemoglobin electrophoresis abnormal (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)
RBC/Red Blood Count (Lab)
Abnormal Lab Findings - Increased
Fetal hemoglobin (Lab)
Iron, serum (Lab)
Diagnostic Test Results
Pathology
Bone Marrow/Iron stores normal/anemia
Bone Marrow/Iron stores/increased
Associated Diseases & Rule outs
Rule Outs
Iron deficiency anemia
Paroxysmal cold hemoglobinuria
Associated Disease & Complications
Anemia
Disease Mechanism & Classification
Class
CLASS/Hematologic (category)
Pathophysiology
Pathophysiology/Genomic indentifiers (polymorphism/snip/mutations)
Process
PROCESS/Hereditofamilial (category)
PROCESS/Hemoglobinopathy disorder (ex)
PROCESS/Molecular/hematologic disorder (ex)
Definition

Thalassemia is diagnosed using blood tests, including a complete blood count (CBC) and special hemoglobin studies.

A CBC provides information about the amount of hemoglobin and the different kinds of blood cells, such as red blood cells, in a sample of blood; People with thalassemia have fewer red blood cells than normal and less hemoglobin than normal in their blood; Carriers of the trait may have slightly small red blood cells as their only sign;

Hemoglobin studies measure the types of hemoglobin in a blood sample; Cooley’s anemia is usually diagnosed in early childhood because of signs and symptoms, including severe anemia; Some people with milder forms of thalassemia may be diagnosed after a routine blood test shows that they have anemia; Doctors suspect thalassemia if a child has anemia and is a member of an ethnic group that is at risk for thalassemia; To distinguish anemia caused by iron deficiency from anemia caused by thalassemia, tests of the amount of iron in the blood may be done; Iron-deficiency anemia occurs because the body doesn’t have enough iron for making hemoglobin; The anemia in thalassemia occurs not because of a lack of iron, but because of a problem with either the alpha globin chain or the beta globin chain of hemoglobin; Iron supplements do nothing to improve the anemia of thalassemia, because missing iron is not the problem; Family genetic studies are also helpful in diagnosing thalassemia; This involves taking a family history and doing blood tests on family members; Prenatal testing can determine if an unborn baby has thalassemia and how severe it is likely to be.

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External Links Related to Hemoglobin E thalassemia
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NEJM (The New England Journal of Medicine)
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