anemia 2b Flashcards
what happens in alpha globin
any of the 4 alpha genes affected
what is MOA of defective gene for alpha thalasemmia
complete deletion
what determines the severity of alpha thalasemmia
number of alpha globulin genes lost
since alpha is lost, what do the gamma and beta chains do
tetramer result of gamma and beta
what happens to a person with loss of all 4 alphas
feta death
what is all 4 alpha loss called
hemoglobin Bart
what is loss of 3 alpha called
hemoglobin H
what happens to the globulins in hemoglobin H
excess beta
tetrameric beta chains
for hemoglobin H, what do they show up as in peripheral smear
Heinz bodies
what are the shapes of the cell in alpha thalassemia for HbH
teardrop cell
bite cell
what is it called when there is a loss of 2 alpha genes
alpha thalassemia traiat
what are the 2 types of alpha thalassemia trait
alpha thal 1 - deletion on same gene
alpha thal 2 - deletion of one gene on each chromosome
intrinsic hereditary hemolytic anemias: qualitative defect
sickle cell diease
what cytoskeleton damage occurs in sickle cell disease
spectrin dimers instead of tetramers
hemoglobinopathy
structurally abnormal hemoglobin produced
Sickle cell produces what type of hemoglobin
HbS homozygous
biochemistry of sickle cell anemia
valine replaces glutamic acid in beta globin chain
what are two big clinical presenations for sickle cell
autosplenectomy chronic leg ulcers dactylitis avascular nercrosis acute chest syndrome gallstone formation
what bacteria is assoicated with autosplenectomy
salmonella
what lab methods are used to determine sickle cell anemia
hemoglobin electrophoresis
HPLC
sickle cell interaction with other hemoglobulins HbA
weak interaction, need severe hypoxia to sickle
sickle cell interaction with other hemoglobulins HbF
inhibits polymerization, moderate severity
what is hemoglobin C
sickling disorder but less severe that sickle cell
biochemistry of hemoglobin C
lysine substituted forglutamic acid in beta
