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Sickle Cell Anemia > Sickle Cell Anemia > Flashcards

Sickle Cell Anemia Flashcards

1
Q

What chromosome is BCL11A on?

A

Chromosome 2

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2
Q

What is the function of BCL11A

A

It is a trans acting transcriptional repressor and gamma globin silencer involved in the switch from gamma to beta globin

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3
Q

What chromosome is HSBS1L-MYB on?

A

Chromosome 6

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4
Q

What is the function of MYB?

A

It is a trans acting intergenic transcription factor which represses the production of gamma globin

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5
Q

What is the severity of sickle cell disease in a patient who had high levels of HbF?

A

Less severe disease

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6
Q 
List the order of these racial haplotypes in order of severity:
     Arab-Indian and Senegal
     Cameroon
     Bantu
     Benin
A 
Most severe to least severe:
    Bantu
    Benin
    Cameroon
    Arab-Indian and Senegal
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7
Q

Normal level of fetal hemoglobin in blood and amount that it can be raised to

A

0.1 to 1%, but can be raised to 20%

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8
Q

During ischemia, what enzyme do RBCs start to express?

A

Xanthine oxidase

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9
Q

Xanthene oxidase converts

A

Oxygen to superoxide radical

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10
Q

The presence of Superoxide radicals lead to inflammation and further vasooclusion and ischemia by which 4 effects?

A
  1. NFkappaB expression
  2. release of inflammatory cytokines
  3. leukocyte activation –> RBC-leukocyte adhesion
  4. Decreased NO availability (no vasodilation)
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11
Q

What adhesion molecules are present on endothelial cells?

A
  1. Adhere to RBCs
    - VCAM
    - Pselectin
  2. Adhere to Leukocytes
    - ICAM
    - Psel
    - Esel
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12
Q

What is the function of SOD1?

A

It converts superoxide to hydrogen peroxide

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13
Q

What is the function of catalase

A

It converts hypdrogen peroxide to water plus oxygen

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14
Q

What are the functions of GPX and PRDX2?

A

They scavenge hydrogen peroxide

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15
Q

What is GSH?

A

Non-enzymatic antoxidant - damaged and dehydrated dense RBCs have very low levels

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16
Q

Autoxidation of HbS leads forms what two molecules?

A

MetHbS and O2- (radical)

17
Q

H202 when in contact with MetHbS causes

A
  • Release of heme and free iron

- These deposit on cytoplasmic surface of RBC membrane and catalyze the production of OH-

18
Q

If superoxide O2- binds NO what is formed?

A

RNS ONOO-

19
Q

What other cells besides RBCs produce ROS in an NADPH oxidase dependent respiratory burst in response to inflammation?

A

PMNs - neutrophils

20
Q

Why is sickle cell anemia considered in double jepoardy?

A

3x as much oxygen radicals and very low levels of enzymatic and nonenzymatic antioxidant scavengers

21
Q

Reaction of SOH with a neighboring cystein will create which two species which are reversible?

A

Disulfide and mixed disulfide–> S-glutathiolated

22
Q

Under increased oxidative stressed SOH can be further oxidized into which two species that lead to irreversible oxidative damage?

A
  1. Sulfrinic Acid -SO2H

2. Sulfonic Acid - S03H

23
Q

In Sickle Cell anemia, there is reversible oxidative damage to which enzyme that allows phospholipids to go down their concentration gradient?

A

Scramblase

24
Q

Damage to scramblase causes:

A

Loss of phosphatidyl serine assymetry (Phosphatidyl serine is usually mantained on the inside) and subsequently, patches of negative charges on the outside leading to coagulation, thrombosis, and recognition by macrophages - decreased lifespan of RBC

25
Q

What is the cause of transformation from low density sickle cells to dense sickle cells?

A

Interaction of abnormal cation transport pathways, which produce cellular dehydration

26
Q

In ISCs, their beta actin contains what:

A

a disulfide bridge that cant depolymerize

27
Q

What are the four causes that leads to the transformation from dense reversible sickle cells to dense ISCs?

A
  1. B-actin
  2. Oxidation
  3. Diminished spectrin
  4. Ubiquination
28
Q

Name some future therapies that are being investigated for sickle cell anemia

A
  1. effect K leakage - senicapoc -gardos channel inhibitor
  2. effect NO levels and adhesion - Statins
  3. Effect oxidative stress -NAC
  4. Effect inflammation - lovostatin
  5. Effect HbF levels - decitabine
  6. Replacement of the defective gene with gene therapy
29
Q

Which biomarker in the plasma correlated with sickle cell associated pulm hypertension and acute pain episodes?

A

apolipoprotein A-1

30
Q

Which biomarker leads to low antioxidant capacity, inc ox stress, and a more severe phenoytype?

A

microRNA mir144

31
Q

How should you treat a patient with acute chest syndrome?

A

treat ALL possible causes quickly

  1. antibiotics
  2. oxygenation
  3. Incentive spirometry
  4. Possible transfusion
32
Q

What is the safest possible transplant cure for sickle cell anemia patients?

A

Harvested placental cord blood from newborn sibling

33
Q

What is the first mild chemotherapeutic treatment agent used in sickle cell anemia?

A

Hydroxyurea

34
Q

What is the only cure for sickle cell anemia?

A

Bone marrow transport with identical HLA - siblings, which is only available in 14% of families

35
Q

Which chromosome is the beta gene cluster for Hb on?

A

Chromosome 11

36
Q

Which chromosome is the alpha gene cluster for Hb on?

A

Chromosome 16

Sickle Cell Anemia (1 decks)

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