Hemolytic Anemias- Part 2: SICKLE CELL ANEMIA- etiopathogenesis, clinical features, diagnosis & management
HEMOGLOBINOPATHIES
Clinical diseases that result from a genetically determined abnormality of the STRUCTURE or SYNTHESIS of the hemoglobin molecule.
The abnormality is associated with the globin chains
The heme portion of the molecule is normal.
SICKLE CELL DISEASE
Sickle cell disease is a multisystem disorder that is caused by a single gene mutation.
Group of disorders characterized by production of sickle hemoglobin ( defective hemoglobin) HbS
SICKLE CELL ANEMIA
Homozygous state caused by β-globin gene mutation.
Point mutation involving codon 6 of β-globin gene
This leads to the substitution of Valine residue for a glutamic acid residue resulting in sickle hemoglobin.
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27 сен 2021
