Hemoglobinopathies Flashcards
these are group of inherited disorder causing structurally abnormal globin chain synthesis due to amino acid substitution
HEMOGLOBINOPATHIES (structural defects in hemoglobin)
-TARGET CELLS associated
-both chains are affected
-severe
-symptomatic
Homozygous / disease condition
-only one globin chain is affected
-mild
-asymptomatic
Heterozygous/ trait condition
caused when VALINE replaces glutamic acid at position 6 on both beta chain
-80% Hgb S, 20% hgb F
-immunity of plasmodium falciparum
-most common hemoglobinopathies
Sickle cell disease (Hgb SS)
most common cause of death in sickle cell disease
Bacterial or infectious crisis
Screening test for Sickle cell
sodium metabisulfate - old method
dithionite solubitlity test- most commonly used
confirmatory test for sickle cell disease
Hemoglobin electrophoresis, HPLC, or capillary electrophoresis
Valine replaces glutamic acid at position 6 on ONE beta chain
Sickle cell trait (Hgb AS)
lysine replaces glutamic acid st postion 6 on both beta chain
characterized by barr of gold crystal
Hemoglobin C disease / Hb CC
most common compound in heterozygous syndrome that result in a structural defect in the hemoglobin
-symptoms are less severe than sickle t=but more severe than Hgb C disease
Hemoglobin SC
lysine replaces glutamic acid at position 26 on the beta chain
Hemoglobin E
glycine replaces glutamic acid at position 121 on the beta chain
HEMOGLOBIN D (PUNJAB)
sequence from most fastest to slowest towars the cathode in cellulose acetate (alkali)
A>F>S>C
sequence from most fastest to slowest towards the cathode in citrate agar (acid)
C>S>A>F
sequence from most fastest to slowest towards the cathode in citrate agar (acid)
C>S>A>F
