Hemoglobinemias Flashcards

1
Q

Rhabdomyolysis

A

high myoglobin in blood stream; Muscle breakdown

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2
Q

Beta-thalasemmia

A

Mutation of 1st position of Intron 2; G->A mutations, thus Exon 1 is spliced out caused reduction or absent synthesis of Beta sheets in Hemoglobin; Sx: microcytic hypochromic anemia

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3
Q

Sickle cell anemia

A

valine (hydrophobic) substituted for glutamic acid on hemoglobin (hydrophilic), deformed erythrocytes rupture easily causing anemia and/or clots

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