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The Mentzer index, described in 1973 by William C. Mentzer, [1] is the MCV divided by the RBC count. It is said to be helpful in differentiating iron deficiency anemia from beta thalassemia trait. [2] [3] The index is calculated from the results of a complete blood count.
β thalassemia major (Mediterranean anemia or Cooley anemia) is caused by a β o /β o genotype. No functional β chains are produced, and thus no hemoglobin A can be assembled. This is the most severe form of β-thalassemia. β thalassemia intermedia is caused by a β + /β o or β + /β + genotype. In this form, some hemoglobin A is produced.
Screenings targeted at them are done by detecting heterozygotes in the thalassemia gene. Whereas screening of fetus is done by one-tube osmotic fragility test (identification of red blood cells resistance to hemolysis), [8] red blood cell tests (measurement of mean corpuscular volume and mean corpuscular haemoglobin) or dischlorophenol ...
The following conditions and disorders were recommended as a "core panel" by the 2005 report of the American College of Medical Genetics (ACMG). [1] The incidences reported below are from the full report, though the rates may vary in different populations.
Alpha-thalassemia (α-thalassemia, α-thalassaemia) is an inherited blood disorder and a form of thalassemia. Thalassemias are a group of inherited blood conditions which result in the impaired production of hemoglobin , the molecule that carries oxygen in the blood. [ 4 ]
Beta-thalassemia (β-thalassemia) is an inherited blood disorder, and a form of thalassemia resulting in variable outcomes ranging from clinically asymptomatic to severe anemia individuals. It is caused by reduced or absent synthesis of the beta chains of hemoglobin , the molecule that carries oxygen in the blood. [ 5 ]
A screening policy exists in Cyprus to reduce the incidence of thalassemia, which since the program's implementation in the 1970s (which also includes pre-natal screening and abortion) has reduced the number of children born with the hereditary blood disease from 1 out of every 158 births to almost zero. [26]
It is a common hematology test, and is a non-specific measure of inflammation. To perform the test, anticoagulated blood is traditionally placed in an upright tube, known as a Westergren tube, and the distance which the red blood cells fall is measured and reported in millimetres at the end of one hour.
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