Ch 14: RBC and Bleeding Disorders

Question 1

what is hereditary spherocytosis

Answer 1

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

Question 2

what is thalassemia

Answer 2

mutations that decrease the synthesis of a or b-globin chains in a hemoglobin molecule

Question 3

how does thalassemia affect the liver and speen

Answer 3

causes hepatosplenomegaly (up to 1500 g)

Question 4

how does thalassemia affect bone marrow

Answer 4

hematopoiesis causes erosion of exsisting cortical bone and therefore new bone formation
crewcut appearence on radiographs

Question 5

what pathology can thalassemia treatments cause

Answer 5

both excessive amounts of erythropoietin and blood transfusions can cause hemocromatosis

Question 6

what is hemochromatosis

Answer 6

secondary iron overload seen in beta-thalassemia cases

Question 7

what hydrops

Answer 7

accumulation of edemic fluid in the fetus during intrauterine growth
can be caused by thalassemias

Question 8

what is immune hydrops

Answer 8

hemolytic disease caused by blood group antigen incompatibility between mother and fetus

Question 9

what is non-iummune hydrops

Answer 9

edemic fluid build up due to heart defects, chromosome abnormalities, or fetal anemia

Question 10

what is hydrops fetalis
-what does the fetus present with

Answer 10

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

Question 11

what is a cystic hygroma

Answer 11

fluid accumulation in the soft tissues of the neck in a fetal hydrops case

Question 12

what is kernicterus

Answer 12

most serous threat of fetal hydrops
CNS damage - bilirubin accumulation in the basal ganglia deep to the ventricles

Question 13

what is sickle cell disease

Answer 13

point mutation in b-globin that causes polymerization of deoxygenated hemoglobin
leads to sickle shaped RBC

Question 14

what is autosplenectomy

Answer 14

a consequence of sickle cell anemia
sickled cells get trapped in splenic sinusoids, causing the spleen to shrink

Question 15

what are gandy-gamna nodules (bodies)

Answer 15

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

Question 16

how can sickle cell anemia affect the gallbladder

Answer 16

excess breakdown of hemoglobin can cause hyperbilirubinemia and formation of gallstones

Question 17

pernicious anemia is a specific form of what type of anemia

Answer 17

megaloblastic

Question 18

folate and vitamin B12 are important to erythroblasts how

Answer 18

important for proliferation during their differentiation

Question 19

what is pernicious anemia

Answer 19

B12 malabsorption caused by autoimmune gastritis

Question 20

what is autoimmune gastritis

Answer 20

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

Question 21

what is intestinalization

Answer 21

body attacks the stomach’s glandular epithelium and replaces it with mucus-secreting goblet cells
seen in pernicious anemia

Question 22

what is atrophic glossitis

Answer 22

shiny, glazed, beefy appearance of tongue due to pernicious anemia
loss of lingual papillae

Question 23

what is the key marker of mucosal intestinalization

Answer 23

goblet cells

Question 24

how does pernicious anemia affect the CNS

Answer 24

causes demyelination of the dorsal and lateral spinal tracts and sometimes loss of axons
leads to sensory ataxia

Question 25

what is B12 important for

Answer 25

cofactor for two essential enzymes involved in the preservation of meylin

Question 26

what is the most common cause of primary polycythemia

Answer 26

polycythemia vera

Question 27

polycythemia can be caused by the compensation to which three types of diseases

Answer 27

lung diseases (COPD) cyanotic heart disease (congenital defects) EPO secreting tumors

Question 28

what are the three main types of EPO secreting tumors

Answer 28

renal cell carcinoma hepatocellular carcinoma cerebellar hemangioblastoma

Question 29

what are petechiae

Answer 29

1-2 mm hemorrahges of the skin, mucous membranes, and serosal surfaces cause by platelet issues

Question 30

what are purpura

Answer 30

3-5 mm hemorrhages caused by platelet issues, trauma, or vasculitis

Question 31

what are ecchymoses

Answer 31

1-2 cm subcutaenous hemorrhages "bruises"

Question 32

what is henoch-schonlein purpura

Answer 32

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

Question 33

what is weber osler-rendu syndrome

Answer 33

a type of hemorrhagic diatheses dominant disorder that causes multiple mucocutaneous telangiectasias most commonly seen in the nose, tongue, mouth, eyes, and GI tract

Question 33

what is thrombocytopenia

Answer 33

low platelet levels in the blood

Question 34

what are the two most common inherited bleeding disorders

Answer 34

hemophilia A von Willebrand disease

Question 35

hemophilia A is caused by mutations in what clotting factor

Answer 35

factor 8

Question 36

what is von Willebrand disease

Answer 36

mild defect in platelet function (not count) most common inherited bleeding disorder of humans (1% of all adults in US)

Question 37

what is the most common inherited bleeding disorder of humans

Answer 37

von Willebrand disease

Question 38

what is hemophilia A

Answer 38

most common hereditary disease associated with life-threatening bleeding

Question 39

what is factor 8 important for

Answer 39

essential cofactor for factor 9 in the coagulation cascade

Question 40

what is the most common hereditary disease associated with life threatening bleeding

Answer 40

hemophilia A

Question 41

what is CAC

Answer 41

COVID-19 associated hypercoagulopathy severe life threatning complication of a SARS-CoV-2 infection