Chaper 11 (blood vessels) Flashcards
(104 cards)
What type of patients are seen with hereditary spherocytosis?
1:2,000 individuals from Northern European ancestry
What are the pathologic cells of hereditary spherocytosis?
red blood cells (erythrocytes), destroyed via hemolysis
What are some unique features of hereditary spherocytosis?
autosomal dominant mutations in RBC membrane proteins, weak RBCs are removed by spleen, manifests with anemia and splenomegaly, jaundice, RBCs lack central pallor
What is the prognosis of hereditary spherocytosis?
variable severity, most have minor anemia, possibly complicated by parvovirus B19 infection (aplastic crisis), splenectomy may be treatment for severely affected patients
What are the pathological cells for sickle cell anemia?
RBCs, destroyed via hemolysis
What type of patients are seen with sickle cell anemia?
8% of african americans are heterozygotes (trait), 1:600 are homozygotes (have anemia)
What are some unique features of sickle cell anemia?
autosomal recessive betaglobin mutation in the RBC hemoglobin, makes RBCs prone to thrombosis, exacerbated by: blood is sluggish (spleen, marrow), dehydration, inflammation
What is the prognosis of sickle cell anemia?
Heterozygotes are asymptomatic and homozygotes express the condition, 50% of homozygotes live past their 50s, death is most commonly from a stroke or acute chest syndrome
What are the different types of thalassemia?
alpha thalassemia, beta thalassemia (beta thalassemia major and beta thalassemia minor)
What are the pathological cells of thalassemia?
RBCs, destroyed via hemolysis
What type of patients seen for thalassemia?
individuals from: mediterranean, african, Southeast Asia
What are some unique features of thalassemia?
Both (alpha and beta) cause early RBC hemolysis and damage RBC precursors in marrow. alpha thalassemia results from alpha-globin mutation and damages RBCs due to unpaired beta-globin (vice versa for beta-thalassemia)
What is the prognosis for alpha-thalassemia?
lethal in utero (4/4 mutations) or asymptomatic carrier (1/4 mutations)
What is the prognosis for beta-thalassemia minor?
asymptomatic or minor anemia, normal lifespan
What is the prognosis for beta-thalassemia major?
sever, hair-on-end skull, growth restrictions, lethal during 20s, hemochromatosis (heart/liver failure) secondary to repeated blood transfusions
What are pathological cells for glucose-6-phosphate dehydrogenase (G6PD) deficiency?
RBCs, destroyed via hemolysis
What type of patients are seen with glucose-6-phosphate dehydrogenase deficiency?
individuals from mediterranean or the Middle East, 10% of U.S. blacks
What are some unique features of glucose-6-phosphate dehydrogenase deficiency?
x-linked, RBCs are susceptible to damage because glutathione can’t be produced without G6PD, hemolysis is exacerbated by oxidants: infections, aspirin, fava beans
What is the prognosis for glucose-6-phosphate dehydrogenase deficiency?
many patients are asymptomatic or have very mild anemia, many go undiagnosed due to the lack of obvious features, avoidance of precipitating oxidants is recommended
What are the pathological cells for paroxysmal nocturnal hemoglobinuria (PNH)?
RBCs, destroyed via hemolysis
What type of patients are seen with paroxysmal nocturnal hemoglobinuria?
individuals from Southeast Asia, or the Far East, frequently diagnoses among middle-aged adults
What are some unique features of paroxysmal nocturnal hemoglobinuria?
x-linked, PIGA gene mutations in myeloid stem cells, RBCs are susceptible to damage from complement fixation, which is exacerbated at night (a pH drops slightly)
What is the prognosis for paroxysmal nocturnal hemoglobinuria?
this condition is very rare, may be managed with antibodies that inhibit the MAC of the complement system
What are the two types of immunohemolytic anemias?
warm and cold