FAQ - hemoglobinopathies
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what is unstable hemoglobinopathies?


Hemoglobinopathies are inherited disorders caused by mutations of the globin genes. Some of these mutations decrease solubility of hemoglobin, and the precipitated hemoglobin decreases survival times of red blood cells (RBCs). These globin mutations are referred to as unstable hemoglobins.

Epidemiology
•Incidence – rare
•Age – neonatal; usually not recognized in the first few months unless related to mutations of γ globin genes
Inheritance
•~250 of 800 known mutations of hemoglobin are unstable
•Inherited as autosomal dominant inherited disorders, although de novo mutations occur
Pathophysiology
•Unstable hemoglobins exhibit altered solubility due to oxidation of amino acid residues in globin chains by these pathophysiological interactions
◦Weakened binding of heme to globin that prevents formation of intact hemoglobin tetramer
◦Mutations that interfere with the secondary and tertiary structure of the subunit
◦Mutations that affect subunit interactions, eg, interference with the quaternary structure
◦Hyperunstable hemoglobins
http://www.arupconsult.com/Topics/UnstableHemoglobinopathies.html  (+ info)

are their any free ebooks available on sickle cell anemia?


(or hemoglobinopathies)
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There is some content relevent to your search in the below page

http://www.bloodindex.org/sickle_cell_disease.php  (+ info)


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