Hematology Flashcards
α-thalassemia
minima: αα/α- (silent)
Minor: α-/α- or αα/– (mild)
Hemoglobin H disease: α-/– (moderate)
microcytic hypochromic anemia
Asian → cis
African → trans
ß-thalassemia
microcytic, hypochromic anemia
↑ HbA2
Minor → heterozygote
Major → homozygote
Sickle cell
Glutamic acid → Valine on the ß-chain
low O2 and acidosis trigger sickling
HbC disease
Glutamic Acid → Lysine on the ß chain
target cells
Ferritin
primary storage form of iron
Acute Intermittent prophyria
defective porphobilinogen deaminase ↑ porphobilinogen Painful abdomen port wine-colored urine polyneuropathy psychological alcohol, starvation
Porphyria cutanea tarda
defective uroporphyrinogen decarboxylase ↑ Uroporphyrin Blistering skin photosensitivity hyperpigmentation associated with Hep C
↑ PTT
intrinsic pathway defect
↑ PT
Extrinsic pathway defect
Hemophilia ABC
A → factor VIII (8)
B → factor IX (9)
C → factor XI (11)
Hemarthroses
easy bruising
intrinsic pathway defects
Bernard-Soulier
GpIb
platelet-vWF adhesion defect
Glanzmann thrombasthenia
GpIIb/IIIa
platelet-platelet adhesion defect
TTP and HUS
Thombocytopenia + hemolyic anemia + AKI
HUS → hx of bloody diarrhea (commonly EHEC)
TTP → triad + fever + neuro symptoms
→ ADAMTS13
von Willebrand
↓vWF
platelet-vWF adhesion defect
↑ PTT
DIC
disseminated intravascular coagulation
widespread activation of clotting leads to ↓ clotting factors →
bleeding state
Factor V leiden
hypercoagulability
DNA point mutation of guanine → adenine
Hodgkin lymphoma
localized, single group of nodes
Reed-Sternberg cells → owl eyes, CD15, CD30
B-cell origin
EBV
Burkitt lymphoma
Non-Hodgkin lymphoma t(8;14) (c-myc; heavy chain Ig) (Burk8) starry sky Jaw lesions in endemic African version Pelvis or abdomen in sporadic form EBV
Diffuse large B-cell lymphoma
BCL-2, BCL-6
common in adults
Follicular lymphoma
t(14;18) (heavy chain Ig ; BCL-2)
painless waxing and waning lymphadenopathy
Mantle cell lymphoma
t(11;14) (cyclin D1 ; heavy chain Ig)
Males (MANtle)
agressive
Marginal zone
t(11;18) (cyclin D1 ; BCL-2) chronic inflammation (Sjogrens, chronic gastritis)
Primary central nervous system lymphoma
AIDs defining illness
Confusion, memory loss, seizures
ring enhancing brain lesion
Adult T-cell lymphoma
HTLV (IV drug abuse)
Japan, Africa, Caribbean
lytic bone lesions, hypercalcemia