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Pathoma
RBC disorders
59
Pathology
Graduate
12/14/2013

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Term
anemia presenation
Definition
weakness, fatigue and dyspnea, pal conjunctiva and skin, HA and lightheadedness, angina
Term
causes of microcytic anemia
Definition
iron deficiency anemia, anemia of chronic disease, sideroblastic anemia nd thalassemia
Term
most common type of anemia
Definition
iron deficiency anemia
Term
normal iron metabolism
Definition
absorbed in duodenum vi DMT1 transorters; into blood via ferroportin; transferrin transports iron in blood; stored intracellular iron is bound to ferritin
Term
wy iron deficiency anemia in adults 20-50
Definition
peptic ulcer disease = males
menorrhagia or pregnancy = females
Term
iron deficiency anemia in elderly
Definition
wester world = colon polyps/carcinoma
developing = hookworm
Term
stages of iron deficiency
Definition
storage iron depleted = decreased ferritin, increased TIBC
serum iron is depleted = decrease serum iron, decrease %sat
normocytic anemia= fewer but normal sized RBCs
microcytic-hypochromic anemia= smaller and fewer RBCs
Term
clinical features of iron deficiency anemia
Definition
anemia, koilonychia (spoon nails) and ica
Term
lab findings of iron deficiency
Definition
increased RDW, decreased ferritin, increased TIBC, decreased serum iron, decreased % sat; increased FEP
Term
features of plummer-binson sndrome
Definition
iron deficiency anemia, esophageal web and atrophic glossitis
Term
function of hepcidin
Definition
sequesters iron in storage sites by limiting iron transfer from macrophages to erythroid precursors and suppression EPO
Term
lab findings of ACD
Definition
increased ferritin, decreased TIBC, decreased serum iron, decreased %sat; increased FEP
Term
treatment of ACD
Definition
address ndelrying cause, exogenous EPO
Term
protoporphyrin synthesis
Definition
succinyl CoA --ALAS + B6--> ALA --ALAD--> porphobilinogen -->-->--> protoporphyrin + Fe --ferrochelatase--> heme
Term
ringed sideroblasts
Definition
Fe + protoporphyrin --> heme happens in the mitochondria; if no protoporphyrin, then Fe builds up in mitochondria and get a ring around nucleus on prussian blue stain
Term
causes of sideroblastic anemia
Definition
alcoholism (mitochondrial poison)
lead poisoning (ALAD and ferrochelatase)
vitamin B6 deficiency (with isoniazid treatment)
Term
lab findings of sideroblastic anemia
Definition
increased ferritin, decreased TIBC, increased serum iron and increased %sat
Term
alpha-thalassemia
Definition
gene deletion
- one gene= asymp
- two genes = mild anemia (Cis = asians, trans = africans; cis is worse)
- three genes = severe anemia, form HbH (beta chain tetramers)
- four genes = hydrous fettles, Hb Barts (gamma chain tetramers)
Term
beta-thalassemia due to gene ________
Definition
mutations
Term
beta-thalassemia minor
- Hb electrophoresis
Definition
mildest form
- decreased HbA, increase HbA2 and increased HbF
Term
beta-thalassemia major
- damage
- clinical features
- treatment
- blood smear
-electrophoresis
Definition
-alpha teramers aggregate and damage RBCs
- massive erythroid hyperplasia (crewcut facies, chipmunk facies, hepatosplenomegaly)
- need chronic transfusions
- microcytic, hypochromic RBCs with target cells andn ulcerated RBCs
- little or no HbA with increased HbA2 and increased HbF
Term
folate
- food sources
- where absorbed
- time frame
Definition
-green vegetables and some fruits
- jejnum
- within months
Term
causes of folate deficiency
Definition
poor diet (alcoholics/elderly), increased demand (pregnancy, cancer and hemolytic anemia) and folate antagonists (methotrexate)
Term
clinical and lab findings of folate deficiency
Definition
macrocytic RBCs and hyper segmented neutrophils; glossitis; decreased serum folate; increased serum homocystein; normal methylmalonic acid
Term
vitamin B12 metabolism
Definition
complexed to animal derived proteins
salivary gland enzymes liverate B12 then bound to R-binder
pancreatic proteases detach B12 from R-binder
vitaimn B12 binds IF in the small bowel and absorbed
Term
pernicious anemia
Definition
most common type of B12 deficiency; autoimmune destruction of parietal cells
Term
causes of B12 deficiency
Definition
pernicious anamia, pancreatic insufficiency, damage to terminal ileum (Crohn, fish tapeworm) vegans
Term
clinical and lab findings of B12 deficiency
Definition
macrocytic RBCs with hyper segmented neutrophils, glossitis, subacute combined degeneration of spinal cord, decreased B12, increased homocysteine, increased methylmalonic acid
Term
corrected reticulocyte count
Definition
multiply reticulocyte count by Hct/45
- if >3% then peripheral destruction
- if <3% then underproduction
Term
extravascular hemolysis
Definition
RBC destruction by RES, jaundice with unconjugated bilirubin, increased bilirubin gallstones, and marrow hyperplasia with corrected RC >3%
Term
intravascular hemolysis
Definition
destruction of RBCs within blood vessels, hemoglobinemia, hemoglobinuria, hemosiderinuria and decreased serum haptoglobin
Term
normocytic anemias with predominant extravascular hemolysis
Definition
hereditary spherocytosis, sickle cell anemia, hemoglobin C
Term
hereditary spherocytosis is a defect in ________, ________ or ________
Definition
spectrin, ankyrin or band 3.1
Term
clincal and lab findings of hereditary spherocytosis
Definition
spherocytes with loss of central pallor, increased RDW, increased MCHC, splenomegaly, jaundice, increased bilirubin gallstones, increased risk for aplastic crisis with parvovirus B19
Term
hereditary spherocytosis
-diagnosis
-treatment
Definition
- osmotic fragility test
- splenectomy
Term
sickle cell mutation
Definition
glutamic acid (hydrophilic) with valine (hydrophobic)
Term
causes of sickling in sickle cell
Definition
hypoxemia, dehydration and acidosis
Term
treatment of sickle cell
Definition
hydroxyurea= increased HbF which is protective
Term
symptoms of sickle cell
Definition
extravascular and intravscular emolysis symptoms, massive erythroid hyperplasia symptoms, dactylics, autospelectomy, acute chest syndrome, pain
Term
sickle cell trait symptoms
Definition
asymp except in renal medulla= decreased ability to concentrate urine
Term
lab findings of sickle cell
Definition
sickle cells, target cells, metabisulfite screen (positive in disease and trait), Hb electrophoresis
Term
Hb electrophoresis
- sickle cell disease
- sickle cell trait
Definition
- 90% HbS, *% HbF, 2% HbA2
- 55% HbA, 43% HbS, 2% HbA2
Term
hemoglocin C disease
Definition
glutamic acid replaced with lysine; characteristic HbC crystals on blood smear
Term
normocytic anemias with predominant intravascular hemolysis
Definition
PNH, G6PD deficiency, IHA, microangiopathic hemolytic anemia, and malaria
Term
defect in PNH
Definition
acquired defect --> absent GPI --> can't have DAF on their surface --> complement damage
Term
PNH
- screening test
- confirmatory test
Definition
-succrose test
- acidified serum test or flow cytometry to detect lack of CD55 (DAF)
Term
cause of death in PNH
Definition
thrombosis of hepatic, portal and cerebral veins
Term
complications of PNH
Definition
iron deficiency anemia, AML
Term
defect in G6PD deficiency
Definition
reduced half life of G6PD so susceptible for oxidative stress
Term
variants of G6PD deficiency
Definition
african= milder
mediterranean= markedly reduced half live so marked intravascular hemolysis
Term
clinical and lab findings of G6PD deficiency
Definition
hemoglobinuria, back pain, heinz bodies, bite cells
Term
cause of oxidative stress in G6PD deficiency
Definition
fava beans, infections, primaqine, sulfa drugs, dapsone
Term
IgG-mediated extravascular hemolysis
- associated with
- treatment
Definition
warm agglutinins
- with SLE, CLL and drugs
- cessation of drugs, steroids, IVIG and splenectomy
Term
IgM mediated intravscular hemolysis
- associated with
Definition
cold agglutinins
- mycoplasma pneumonia and infectious mononucleosis
Term
coombs test
- direct
- indirect
Definition
- confirms presence of antibody coated RBCs in pt serum
- confirms presence of antibodies in pt serum
Term
malaria
- cause
- vector
- which worse
Definition
- plasmodium
- anopheles mosquito
- P falciparum= daily fever vs. P vivax and ovale = every other day
Term
etiologies of anemia due to underproduction
Definition
causes of microcytic an macrocytic anemia, renal failure, damage to bone marrow precursor cells
Term
aplastic anemia
- results in ________ and ________
- etiologies
- bopsy
- treatment
Definition
- pancytopenia and low reticulocyte count
- chemicals, viral infections and autoimmune damage
- empty, fat marrow
- cessation of causative drugs, supportive care, marrow-stimulating factors
Term
myelophthisic process
Definition
pathologic process that replaces bone marrow --> pancytopenia
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