Disease Information for Alpha-thalasssemia/MR syndrome (Xq13)

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Laboratory Tests
Abnormal Lab Findings (Non Measured)
Chorionic Villous Sampling Abnormalities
Hemoglobin Electrophoresis Normal (Lab)
Microcytes/small RBCs on Blood smear
Microcytosis/microcytic anemia (Lab)
Abnormal Lab Findings - Decreased
MCV/Mean Corpuscular Volume (Lab)
MCV/RBC Ratio (Mentzer Index)
Abnormal Lab Findings - Increased
URINE Hemosiderin
Diagnostic Test Results
Other Tests & Procedures
Amniocentesis/Abnormality
Disease Mechanism & Classification
Class
CLASS/Pediatric disorders (ex)
Pathophysiology
Pathophysiology/Gene locus Chromosome 16
Pathophysiology/Gene locus Chromosome X.
Pathophysiology/Gene Locus Identified/OMIM database
Pathophysiology/Gene locus Xq13
Pathophysiology/Genomic indentifiers (polymorphism/snip/mutations)
Pathophysiology/Maternal Chromosome mutation
Process
PROCESS/Eponymic/Esoteric/Not yet integrated into database
PROCESS/Genetic disorder/Spontaneous mutations/sporadic
PROCESS/INCIDENCE/Esoteric disease (example)
Definition

gene locus Xq13; Thalassemia is diagnosed using blood tests, including a complete blood count (CBC) and special hemoglobin studies; 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; 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; 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 Alpha-thalasssemia/MR syndrome (Xq13)
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Wikipedia
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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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