Hemoglobin - Beta Locus
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چکیده
The clinical severity of the beta-thalassemia syndromes depends on the extent of globin alpha chain/non-globin alpha chain imbalance. In beta thalassemia, excess alpha chains are produced, which bind to the red blood cell membranes and form toxic aggregates producing membrane damage and causing intravascular hemolysis. Clinical presentation of beta-thalassemia major occurs from six to 24 months of age. Affected infants fail to thrive and become progressively pale. Feeding problems, diarrhea, irritability, recurrent bouts of fever, and progressive enlargement of the abdomen caused by splenomegaly may occur. After the age of 10 years, affected individuals are at risk of developing severe complications related to iron overload, including growth retardation and failure of sexual maturation.
منابع مشابه
Structural organization of the beta-globin locus of B-haplotype sheep.
Goats and some sheep synthesize a juvenile hemoglobin, Hb C (alpha 2 beta C2), at birth and produce this hemoglobin exclusively during severe anemia. Sheep that synthesize this juvenile hemoglobin are of the A haplotype. Other sheep, belonging to a separate group, the B haplotype, do not synthesize hemoglobin C and during anemia continue to produce their adult hemoglobin. To understand the basi...
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