heme II: aplastic anemias

pathophysiology of aplastic anemias

destruction of hematopoietic stem cells

all of the following are characteristics of aplastic anemia EXCEPT

increased LDH

which stem cell is deficient in aplastic anemia

CD34

which cell is elevated during acquired aplastic anemia

T lymphocytes

increased T cell production of IFN-gamma and TNF-alpha do what?

inhibit hematopoiesis and induce apoptosis

paroxysmal nocturnal hemoglobinuria is characterized as the absence of

CD55 and CD59

fanconi anemia is characterized by

chromosome instability, leading to bone marrow failure

the underlying cause of fanconi anemia is

a defect in a DNA repair pathway

clinical findings of fanconi anemia

short stature, skeletal abnormalities

diagnostic test for fanconi anemia

chromosomal breakage analysis

dyskeratosis congenita is characterized by

short telomeres leading to premature stem-cell exhaustion

diagnostic test for dyskeratosis congenita

flow FISH

schwachman-bodian-diamond syndrome is characterized by

pancreatic insufficiency

what does pancreatic insufficiency cause

gastrointestinal malabsorption

which disease will show increased fat excretion in a 72 hour fecal fat test

schwachman-bodian-diamond syndrome

nail dystrophy is a characteristic of

dyskeratosis congenita

the clinical consequences of pancytopenia include

fatigue, infection, and bleeding

idiopathic acquired aplastic anemia is due to a(n)

unknown cause

the pathophysiologic mechanism in acquired idiosyncratic aplastic anemia is

destruction of stem cells by autoimmune T cells

the most consistent peripheral blood findings in severe aplastic anemia are

macrocytosis, thrombocytopenia, and neutropenia

the treatment that has shown the best success rate in young patients with severe aplastic anemia is

bone marrow transplant with an HLA-identical sibling

the test that is most useful in differentiating fanconi anemia from other causes of pancytopenia is

chromosome breakage test

mutations in genes that code for the telomerase complex may induce bone marrow failure by causing which one of the following

premature death of hematopoietic stem cells

diamond-blackfan anemia differs from fanconi anemia in that in the former:

only erythropoiesis is affected

the primary pathophysiologic mechanism of anemia associated with chronic kidney disease is

inadequate production of erythropoietin

pure red cell aplasia (PRCA) has a severe decrease in ___ precursors

erythrocyte

all are aplastic anemias except

vitamin b12 deficiency