Ch 14: RBC and Bleeding Disorders Flashcards
what is hereditary spherocytosis
type of hemolytic anemia
mutations lead to an insufficiency of a RBCs membrane skeletal components
rounded cells get stuck in spleen and their destruction causes splenomegaly
what is thalassemia
mutations that decrease the synthesis of a or b-globin chains in a hemoglobin molecule
how does thalassemia affect the liver and speen
causes hepatosplenomegaly (up to 1500 g)
how does thalassemia affect bone marrow
hematopoiesis causes erosion of exsisting cortical bone and therefore new bone formation
crewcut appearence on radiographs
what pathology can thalassemia treatments cause
both excessive amounts of erythropoietin and blood transfusions can cause hemocromatosis
what is hemochromatosis
secondary iron overload seen in beta-thalassemia cases
what hydrops
accumulation of edemic fluid in the fetus during intrauterine growth
can be caused by thalassemias
what is immune hydrops
hemolytic disease caused by blood group antigen incompatibility between mother and fetus
what is non-iummune hydrops
edemic fluid build up due to heart defects, chromosome abnormalities, or fetal anemia
what is hydrops fetalis
-what does the fetus present with
most severe form of a-thalassemia that is caused by deletion of all four a-globin genes
fetus presents with edema, cystic hygroma, and kernicterus
what is a cystic hygroma
fluid accumulation in the soft tissues of the neck in a fetal hydrops case
what is kernicterus
most serous threat of fetal hydrops
CNS damage - bilirubin accumulation in the basal ganglia deep to the ventricles
what is sickle cell disease
point mutation in b-globin that causes polymerization of deoxygenated hemoglobin
leads to sickle shaped RBC
what is autosplenectomy
a consequence of sickle cell anemia
sickled cells get trapped in splenic sinusoids, causing the spleen to shrink
what are gandy-gamna nodules (bodies)
consequence of sickle cell anemia
“tobacco flecks”
yellow-brown spots in the splenic parenchyma that are made of iron and salt deposits
caused by chronic episodes of vasco-occlusion in the white pulp of the spleen
how can sickle cell anemia affect the gallbladder
excess breakdown of hemoglobin can cause hyperbilirubinemia and formation of gallstones
pernicious anemia is a specific form of what type of anemia
megaloblastic
folate and vitamin B12 are important to erythroblasts how
important for proliferation during their differentiation
what is pernicious anemia
B12 malabsorption caused by autoimmune gastritis
what is autoimmune gastritis
cause of pernicious anemia
body attacks the stomach’s glandular epithelium and replaces it with mucus-secreting goblet cells
in the process, parietal cells are lost so intrinsic factor cannot be made
what is intestinalization
body attacks the stomach’s glandular epithelium and replaces it with mucus-secreting goblet cells
seen in pernicious anemia
what is atrophic glossitis
shiny, glazed, beefy appearance of tongue due to pernicious anemia
loss of lingual papillae
what is the key marker of mucosal intestinalization
goblet cells
how does pernicious anemia affect the CNS
causes demyelination of the dorsal and lateral spinal tracts and sometimes loss of axons
leads to sensory ataxia
what is B12 important for
cofactor for two essential enzymes involved in the preservation of meylin
what is the most common cause of primary polycythemia
polycythemia vera
polycythemia can be caused by the compensation to which three types of diseases
lung diseases (COPD)
cyanotic heart disease (congenital defects)
EPO secreting tumors
what are the three main types of EPO secreting tumors
renal cell carcinoma
hepatocellular carcinoma
cerebellar hemangioblastoma
what are petechiae
1-2 mm hemorrahges of the skin, mucous membranes, and serosal surfaces
cause by platelet issues
what are purpura
3-5 mm hemorrhages
caused by platelet issues, trauma, or vasculitis
what are ecchymoses
1-2 cm subcutaenous hemorrhages
“bruises”
what is henoch-schonlein purpura
a type of hemorrhagic diatheses
systemic immune disorder that causes small blood vessles in your body to become inflamed and bleed
characterized by pupura, abdominal pain, joint pain, and glomerulonephritis
what is weber osler-rendu syndrome
a type of hemorrhagic diatheses
dominant disorder that causes multiple mucocutaneous telangiectasias
most commonly seen in the nose, tongue, mouth, eyes, and GI tract
what is thrombocytopenia
low platelet levels in the blood
what are the two most common inherited bleeding disorders
hemophilia A
von Willebrand disease
hemophilia A is caused by mutations in what clotting factor
factor 8
what is von Willebrand disease
mild defect in platelet function (not count)
most common inherited bleeding disorder of humans (1% of all adults in US)
what is the most common inherited bleeding disorder of humans
von Willebrand disease
what is hemophilia A
most common hereditary disease associated with life-threatening bleeding
what is factor 8 important for
essential cofactor for factor 9 in the coagulation cascade
what is the most common hereditary disease associated with life threatening bleeding
hemophilia A
what is CAC
COVID-19 associated hypercoagulopathy
severe life threatning complication of a SARS-CoV-2 infection
