Disease Information for Thalassemia minor

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Clinical Manifestations
Clinical Presentation & Variations
Anemia in Children
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
Family history/Gallbladder disease
Sex & Age Groups
Population/Child
Population/Children/all
Laboratory Tests
Microbiology & Serology Findings
Reticulocytosis
Microbiology & Serology Findings
Reticulocytosis
Abnormal Lab Findings (Non Measured)
Bite cells/RBC (Lab)
Blister cells/RBC (Lab)
Heinz bodies RBC (Lab)
Heinz Body Prep/RBCs Positive
Hemoglobin electrophoresis abnormal (Lab)
Indirect bilirubin inc/normal direct bil. (Lab)
Microcytes/small RBCs on Blood smear
Microcytosis/microcytic anemia (Lab)
Abnormal Lab Findings - Decreased
Hematocrit (Lab)
Hemoglobin (Lab)
MCH (Lab)
MCHC (Lab)
MCV/Mean Corpuscular Volume (Lab)
MCV/RBC Ratio (Mentzer Index)
Osmotic fragility, RBC (Lab)
RBC/Red Blood Count (Lab)
Reticulocytes (Lab)
Abnormal Lab Findings - Increased
Anisocytosis (Lab)
Basophilic stippling, RBC (Lab)
Bilirubin, serum (Lab)
Fetal hemoglobin (Lab)
Free hemoglobin, plasma (Lab)
Indirect bilirubin (Lab)
Iron, serum (Lab)
Nucleated red blood cells/Normoblasts (Lab)
Poikilocytes (Lab)
Polychrome RBCs (Lab)
Reticulocytes (Lab)
Target cells (Lab)
Transferrin saturation (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
Associated Disease & Complications
Anemia
Bilirubinemia
Kernicterus
Neonatal hyperbilirubinemia
Priapism/persistent erection
Thallasemia minor/trait
Disease Mechanism & Classification
Class
CLASS/Erythrocyte disorder (ex)
CLASS/Hematologic (category)
Pathophysiology
Pathophysiology/Chromosome gene locus 11 (11p15) region
Pathophysiology/Gene locus Chromosome 11
Pathophysiology/Gene locus Chromosome 11p
Pathophysiology/Gene locus Chromosome 16
Pathophysiology/Gene Locus Identified/OMIM database
Pathophysiology/Genomic indentifiers (polymorphism/snip/mutations)
Process
PROCESS/Hereditofamilial (category)
PROCESS/Hemoglobinopathy disorder (ex)
PROCESS/Molecular/hematologic disorder (ex)
Synonyms
Synonym
ANEMIA HEMOLYTIC THALASSEMIA MINOR, minor thalassemia, Thalassaemia minor, thalassemia minor, Thalassemia minor (disorder), THALLASSEMIA MINOR, Synonym/Heterozygous beta thalassemia
Treatment
Other Treatments
TX/Genetic counselling
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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Hemoglobin is a protein that is carried by red cells; It picks up oxygen in the lungs and delivers it to the peripheral tissues to maintain the viability of cells; Hemoglobin is made from two similar proteins that "stick together"; Both proteins must be present for the hemoglobin to pick up and release oxygen normally; One of the component proteins is called alpha, the other is beta; Before birth, the beta protein is not expressed; A hemoglobin protein found only during fetal development, called gamma, substitutes up until birth; Like all proteins, the "blueprint" for hemoglobin exists in DNA ; Normally, an individual has four genes that code for the alpha protein, or alpha chain; Two other genes code for the beta chain;

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External Links Related to Thalassemia minor
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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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