hemoglobinopathies Flashcards
crizanlizumab
monoclonal antibody to P-selectin
voxelotor
Sickle Hemoglobin (HbS) polymerization inhibitor
Beta thalassemia trait
one beta globin gene carrying a thalassemia mutation
mild or no anemia
asymptomatic
Beta thalassemia intermedia
two beta globin genes carrying a thalassemia mutation (at least 1 which is mild mutation)
mild to moderate anemia
relative transfusion independence
splenomegaly, bone deformities
Beta thalassemia major
two beta globin genes carrying a thalassemia mutation (at least 1 which is severe mutation)
severe anemia
transfusion dependence from infancy
splenomegaly, bone deformities, iron overload
Elevated hemoglobin A2 level
iron overload
related to transfusion dependence
leads to iron deposition in heart, liver, and endocrine glands leading to endocrinopathies (i.e. osteoporosis, hypogonadism).
treat with iron chelation (ie deferasirox)
Hgb A (adult Hgb)
α2β2
Hgb F (fetal Hgb)
α2γ2
alpha thalassemia carrier
asymptomatic
alpha thalassemia minor
asymptomatic
HbH Disease
symptomatic
in adults, excess β chains form β4 tetramers, called hemoglobin H (HbH)
wide range of phenotypic characteristics
Hemoglobin Bart’s Disease (hydrops fetalis)
in fetus, excess γ chains form γ4 tetramers, called hemoglobin Bart’s
α+-thalassemia
one pair of the genes is deleted or inactivated by point mutation
α0-thalassemia
both pairs of the α genes on the same chromosome are deleted.
clinically relevant subtype!
Sickle trait (AS)
hb nml
Hb S 40%, Hb A 60%, no clinical severity
