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Course 1 > Anemia > Flashcards

Anemia Flashcards

1
Q

Describe the sequential suppression and activation of individual globin genes

A

γ-globin + α-globin chains form HbF.

After birth switch from HbF to adult hemoglobin (HbA), transcriptional switch from γ- to β-globin

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2
Q

Outline the steps in RBC destruction

A 
120 days in circulation 
macrophage remove RBC
globin --> AA
iron --> liver or spleen as ferritin/hemosiderin 
non-iron heme --> bilirubin
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3
Q

How does marrow respond to hypoxia?

A

EPO production stimulate erythropoiesis

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4
Q

Most common symptoms associated with anemia

A

Tachycardia, dyspnea, fever, postural hypotension
Weakness, SOB, dizziness
Fatigue, limited exercise tolerance
Pallor (palms, nail beds, face, conjuctivae, palmar crease)
Jaundice
Presence/absence of lymphadenopathy, hepatosplenomegaly, bone pain
Bleeding/bruising signs

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5
Q

What lab tests are used to diagnose anemia?

A 
CBC/PBS-- MCV
Retic
bilirubin 
LDH 
iron studies 
bone marrow (aspirate, biopsy)
creatinine 
hemoglobin electrophoresis
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6
Q

Pathophysiology of iron deficiency in children, adults, pregnancy

A

adults: overt/occult bleeding, blood donation, decreased intake
children: increased growth
female: menstration, pregnancy, lactation
reduced absorption: celiac disease, atrophic gastritis, bariatric surgery

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7
Q

PE findings for iron deficiency

A

blue sclerae, atrophic glossitis (loss of tongue papillae), angular cheilitis, koilonychias

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8
Q

Lab findings for iron deficiency

A
  • CBC: low RBC count, low hemoglobin, low reticulocytes, low MCV
  • PBS: erythrocytes with increased central pallor
  • Decreased serum iron and ferritin
  • Decreased transferrin saturation
  • Increased total iron binding capacity
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9
Q

Treatment for iron deficiency

A
  • Iron supplements (ferrous sulfate)
  • Parenteral iron
  • Increase dietary iron, vitamin C, transfusion
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10
Q

Pathophysiology of folate deficiency

A

THF (folate derivative) needed to synthesize thymine

DNA replication delayed, no mitosis, defective, large cells with fragile membranes

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11
Q

PE findings unique for B12 deficiency

A

neurological symptoms: tingling, burning in feet, hands, arms, legs

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12
Q

Lab tests for B12 and folate deficiency

A

-PBS (hyper-segmented neutrophils), CBC (MCV >100)
-Serum B12, folate low
-MMA and homocysteine levels high
-IF antibody—positive
-Parietal cell antibody (produce IF) positive
Gastrin—increased, seen in pernicious anemia

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13
Q

DD for bone marrow failure

A

Marrow infiltration—malignancies (leukemia, lymphoma, multiple myeloma), infection, primary myelofibrosis
Bone marrow aplasia—nutrition deficiency, aplastic anemia, infectious, immune destruction, medication
Stem cell damage or suppression—chemo, radiation, drugs, toxins
Nutrition deficiency

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14
Q

Investigations for bone marrow failure

A

CBC w/ WBC differential, RBC indices, PBS
Retic. Count
PT/PTT (coagulopathy)
Electrolytes, renal, liver function tests, LDH, Ca, uric acid (tumor lysis syndrome, hypercalcemia, renal failure, hyperuricemia may be associated with diseases that also cause pancytopenia, including multiple myeloma, leukemia, lymphoma)
Bone marrow biopsy

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15
Q

Cause of aplastic anemia

A

drugs, radiation, toxins, viral infections

Autoimmune in most cases

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16
Q

Treatments for Aplastic Anemia

A

Allogenic HCT

Immunosuppressive therapy

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17
Q

History & PE findings for hemolytic anemia

A

Symptoms of anemia in the absence of bleeding
Jaundice
Dark urine (intravascular hemolysis)
Initiation of new medication with potential for causing hemolysis
History of unexplained anemia/hemolytic anemia in family members
History of pigmented gallstones
Splenomegaly

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18
Q

Define intracorpuscular versus extracorpuscular defects in hemolysis

A

Intracorpuscular defects: altered properties of the RBC are responsible for hemolysis
Extracorpuscular defects: RBC normal but destroyed due to mechanical, immunologic, infectious, or metabolic/oxidant damage

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19
Q

Describe the direct and indirect antiglobulin test.

A 
Direct antiglobulin (Coombs) test: Take patient RBC and incubate with anti-human IgG and anti-human C3d antibodies
Indirect antiglobulin test: find antibodies in serum; patient’s plasma incubated with test red cells, observed for agglutination
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20
Q

Pathophysiology for hereditary spherocytosis

A

HS has defective spectrin; lead to reduced vertical associations between the cytoskeleton and membrane, progressive membrane loss –> reduced ratio of RBC SA to volume, progressively more spherical cells
Hemolysis bc reduced deformability, impairing passage through constricted regions of the microcirculation
Phagocytosis by splenic macrophages promotes further membrane loss, further impairs passage through the narrow fenestrations of the splenic cords, they fail to pass and get phagocytosed

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21
Q

Pathophysiology for G6PD

A

G6PD involved in production of NADPH, oxidative protection, oxidative damage causes Heinz bodies, phagocytosed

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22
Q

investigation for Hereditary sphereocytosis

A

Coombs negative (non-immune), spherocytes on PBS, positive family history, negative testing for other inherited hemolytic anemias
Low Hb, high retic, high LDH, bilirubin, low haptoglobin
Confirmatory test: EMA (eosin-5-maleimide)

23
Q

Treatments for Hereditary sphereocytosis

A

supportive measures, such as folic acid supplementation, transfusions, EPO, splenectomy

24
Q

HbF composition

A

<1% by early childhood

two alpha globins and two gamma globins

25
Q

HbA composition

A

96 to 97 percent of total Hb

two alpha globins and two beta globins

26
Q

HbA2 composition

A

2-3%

two alpha globins and two delta globins

27
Q

alpha thal 4 gene deletion leads to

A 
hydrops fetalis (--/--)
only produce Hb Barts, cannot produce HbF, or adult hemoglobin
28
Q

alpha globin gene is on chromosome ___

A

16

29
Q

genetics of HbH disease

A

loss of three alpha chain genes; deletional (–/a-) or nondeletional (–/aat), both HbA and HbH (tetramers of beta globin) are produced

30
Q

genetics of alpha thal minor/minima

A

loss of two alpha-chain genes causes alpha thalassemia minor (aa/–, a-/a-)

31
Q

what does loss of single alpha chain cause?

A

minima, benign carrier state

32
Q

pathophysiology of alpha thal

A

absence of alpha globin chains, excess of gamma in fetus and newborn, and excess beta globin in children and adults; excess beta globin chains produce tetramers (HbH), unstable and precipitate within cell

33
Q

pathophysiology of beta thal

A

excess of alpha globin chains, cannot form soluble tetramers and begin aggregating, affecting membrane assembly and accelerating programmed cell death

34
Q

clinical manifestations of thalassemia

A

a) Severe anemia – thalassemia major, moderate anemia – thalassemia intermedia, mild anemia, microcytosis
b) Jaundice, pigment gallstones
c) Skeletal changes
d) Bone pain
e) Iron overload (ineffective erythropoiesis; increased intestinal iron uptake, and transfusion iron overload)
f) Growth impairment
g) Hepatosplenomegaly (due to chronic hemolysis)
h) Endocrine and metabolic abnormalities

35
Q

genetics of beta thal

A

B+ (reduced production) or B0 (no production)

2 genes on chromosome 11

36
Q

genetics for beta thal trait

A

B+B or B0B

37
Q

Genetics for beta thal minor

A

B+B+

38
Q

Genetics for beta thal intermedia

A

B+B0

39
Q

Genetics for beta thal major

A

B0B0

40
Q

investigation for alpha thal

A 
CBC; MCV; smear
HPLC (↑ HbH  ie. Hb Barts) 
↑ unconjugated bilirubin
↑ reticulocytes
↑ EPO
↓ Haptoglobin
Target cells
Heinz Bodies
41
Q

investigation for beta thal

A 
CBC, MCV, smear
Hb electrophoresis/HPLC: ↑HbA2 (↑Hb δ), ↑HbF ↑ unconjugated bilirubin
↑ LDH
↑ reticulocytes
↑ EPO
↓ Haptoglobin
Hypochromic
Targets cells
Heinz Bodies
42
Q

treatment for alpha thal

A

HbH disease: transfusions if necessary
Fetal Hydrops: intrauterine transfusion; marrow transplant; stem cells
Counselling

43
Q

treatment for beta thal

A

transfusions with Iron chelation
Bone marrow transplant
counselling
chelators: desferol, ferriprox

44
Q

presentation of lead poisoning

A

anemia
neurological symptoms
abdominal pain, constipation

45
Q

investigation for lead poisoning

A

CBC, MCV, smear
basophilic stippling
serum Pb

46
Q

treatment for lead poisoning

A

chelation

47
Q

further investigation for iron deficiency

A

scope if male and >50yr

if bowel changes, test for Celiac

48
Q

what is hemoglobin E

A

Hemoglobin E (HbE), a mutation of the beta globin chain, is associated with reduced expression
heterozygous HbE –> minimal morphological abnormalities
Homozygotes –> hypochromic microcytic red cells with significant morphological abnormalities including increased numbers of target cells

49
Q

geographic distribution of Hemoglobin S disorders

A

Africa, the Middle East, Mediterranean countries, and among the tribes of India

50
Q

pathophysiology of sickling in Hemoglobin S disease

A

Hemoglobin S (HbS), caused by a mutation of the beta globin chain, aggregate into rigid polymers when deoxygenated. This leads to the formation of sickle-shaped red cells that occlude blood flow

51
Q

geographical distribution of thalassemias

A

Alpha: Southern China, Malaysia, and Thailand. Mild forms are also commonly encountered in individuals of African origin.
Beta thalassemia – Beta thalassemia is highly prevalent in Africa.
sub-Saharan Africa, the Asian-Indian subcontinent, Southeast Asia, and the Mediterranean region) in which malaria was (or is) endemic

52
Q

clinical consequences of hemoglobin sickling

A

reduction in deformability, increased adhesion to vascular endothelial cells, inflammation, and activation of hemostatic mechanisms –> cause vascular obstruction and vaso-occlusion

53
Q

describe Sickle cell crises

A

triggered by cold, wind, low humidity, dehydration, stress; HbS polymerization, RBC obstruct and reduce blood flow to vital organs leading to ischemia, necrosis and pain

54
Q

how to treat hemoglobin S disorders

A

Life-long cure for SCD is hematopoietic stem cell transplant
Infection prevention: immunization (Streptococcus pneumoniae, seasonal influenza,Neisseria meningitidis,Haemophilus influenzaetype B, and hepatitis B), prophylactic penicillin for young children
Folic acid supplement, no iron
Hydroxyurea—increases HbF production

Course 1 (6 decks)

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