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Classical Hematology > Hemoglobinopathies and Sickle Cell Disease > Flashcards

Hemoglobinopathies and Sickle Cell Disease Flashcards

1
Q

HbA: 97%
HbA2: 2%
HbF: 1%
HbS: 0%
HbC: 0%

A

Normal

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2
Q

HbA: 92%
HbA2: 5%
HbF: 3%
HbS: 0%
HbC: 0%

A

Beta-thalassemia trait (A/B+ or A/B0)

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3
Q

HbA: 50%
HbA2: 3%
HbF: 2%
HbS: 45%
HbC: 0%

A

Sickle Cell Trait

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4
Q

HbA: 0%
HbA2: 2%
HbF: 5%
HbS:93%
HbC: 0%

A

HbSS

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5
Q

HbA: 0%
HbA2: 15%
HbF: 10%
HbS: 75%
HbC: 0%

A

HSB0

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6
Q

HbA: 37%
HbA2: 5%
HbF: 2%
HbS: 55%
HbC: 0%

A

HbSB+

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7
Q

HbA: 0%
HbA2: 2%
HbF: 1%
HbS: 45%
HbC: 42%

A

HbSC

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8
Q

HbA: 0%
HbA2: 2%
HbF: 3%
HbS: 0%
HbC: 95%

A

HbCC

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9
Q

HbA: 55%
HbA2: 2%
HbF: 1%
HbS: 0%
HbC: 43%

A

HbC Trait (AC)

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10
Q

HbA: 0%
HbA2: 2%
HbF: 40%
HbS: 58%
HbC: 0%

A

HbS/HPHbF
*Hereditary Persistence of HbF

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11
Q

What is Hb Barts?

A

Total absence of alpha globins in utero, meaning Hb is four gamma globins. It has high oxygen affinity causing hypoxia.

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12
Q

What is Hb H?

A

(a-/–)
Major absence of alpha globins after birth, meaning four beta globins conglomerate. This leads to hemolysis and ineffective erythropoiesis. It is transfusion dependent.

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13
Q

Genotype, Hb electrophoresis, and clinical manifestation of alpha thalassemia minima

A

(-a/aa) Clinically silent
Hb electrophoresis is normal

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14
Q

Genotype, Hb electrophoresis, and clinical manifestations of Alpha thalassemia trait?

A

(a-/a-) or (aa/–)
Clinically mild hypochromic, microcytic anemia
Hb electrophoresis is normal

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15
Q

What’s the difference between deletional Hb H disease and non-deletional?

A

Non-Deletional (Hb Constant Spring) is much more severe anemia

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16
Q

What’s the difference between B+ and B0 thalassemia?

A

B+ is reduced expression and B0 is absence of expression

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17
Q

What is the clue on Hb electrophoresis that the answer is Beta thalassemia trait?

A

HbA2 >3.5%

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18
Q

What are clinical complications of Beta thalassemia major?

A

Obviously RBC transfusions
Osteoporosis
Splenomegaly
High output heart failure
pHTN
Thrombotic events
Leg ulcers

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19
Q

A patient has transfusion dependent beta thalassemia and significant splenomegaly. What effect would a splenectomy have?

A

Increase risk of thrombosis, silent cerebral infarcts, pHTN, leg ulcers, infection, and iron endocrinopathies

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20
Q

What is Betibeglogene autotemcel?

A

Gene therapy for beta thalassemia that works like CAR-T. ~90% achieve transfusion independence

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21
Q

What is exagamglogene autotemcel?

A

CRISPR gene-editing cell therapy that targets BCL11A to raise HbF levels. 91% transfusion independence

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22
Q

What are indications for chronic RBC transfusions in TDT?

A

Hgb <7 on 2 occasions, more than 2 years apart or
less severe anemia but symptomatic

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23
Q

What is the goal hb in chronic transfusions for TDT?

A

9.5-10.5

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24
Q

Hemoglobin E homozygosity has what clinical manifestations?

A

Asymptomatic, minimal anemia, low MCV

25
Q

What hemoglobin migrates withA 2 and C in alkaline electrophoresis and migrates with A and A2 in acid on agarose gel?

A

Hemoglobin E

26
Q

What hemoglobin migrates like HbS on alkaline electrophoresis and migrates like HbA ona cid electrophoresis

A

Hemoglobin Lepore

27
Q

What is the clinical manifestations of Hb Lepore?

A

Moderate-severe anemia

28
Q

What clinical manifestation is more common in HbSC disease compared to SCD?

A

Proliferative retinopathy

29
Q

What is the phenotype of Sickle cell/alpha thalassemia?

A

Milder phenotype, milder anemia. Reduced incidence of leg ulcers, but increased incidence of osteonecrosis

30
Q

What are clinical complications of sickle cell trait?

A

Not a disease. normal life span. but there are increased risk of renal medullary carcinoma and UTI in pregnancy

31
Q

When is a RBC transfusion NOT indicated in treatment of sickle cell disease?

A

Uncomplicated acute pain

32
Q

Clinical manifestations of acute chest syndrome

A

Fever and/or respiratory symptoms with new pulmonary infiltrate on CXR

33
Q

Treatment of Acute chest syndrome?

A

Simple transfusion for those with Hb >2 below baseline, lobar involvement, hypoxemia, increasing O2 needs. Exchange transfusion for severe

34
Q

Secondary prevention treatment options for ACS in sickle cell? (2)

A

Hydroxyurea
Chronic transfusions

35
Q

What screening test done in children predicts an increased risk of ischemic stroke in SCD?

A

Abnormal transcranial dopppler

36
Q

Management of acute ischemic stroke in SCD (2)

A

Exchange transfusion
Aspirin

37
Q

2 treatment options for prevention of acute ischemic stroke in SCD?

A

Chronic transfusions and hydroxyurea

38
Q

Primary prevention for acute ischemic CVA for children with abnormal transcranial doppler

A

Chronic transfusions to keep HbS <30% and Hb >9 for 1 year. Can switch to hydrea after 1 year
or hydrea

39
Q

Clinical manifestation of hyperhemolysis

A

Pain, marked hemolytic anemia often occurring within 1 week after RBC transfusion. Can be DAT positive or negative, low reticulocyte count

40
Q

Management of hyperhemolysis

A

IVIG
Steroids

41
Q

You see an inpatient with SCD admitted for pain crisis, on opiates. Has splenomegaly but no signs of ACS. After RBC transfusion, spleen shrinks and she is in hypovolemic shock. Diagnosis and management?

A

Splenic sequestration crisis
RBC transfusion
Splenectomy

42
Q

painless hematuria or flank pain with hematuria in SCD should make you think of what complication?

A

Renal papillary necrosis

43
Q

Patient with SCD presents witha cute protrusion of R eye, pain, lid/orbital edema. Diagnosis and treatment?

A

Orbital infarction.
IV fluids, pain control, steroids

44
Q

What is prognostic for patients with SCD and pHTN?

A

Abnormal TR jet velocity are at increased risk of mortality, should get RHC

45
Q

Indications (7) for simple RBC transfusion

A

Symptomatic
Pre-operative
Transient RCA
Splenic sequestration
Hepatic sequestration
Mild ACS
Pain crises

46
Q

At what hemoglobin level do you not increase above when transfusing a patient with SCD?

A

10

47
Q

Goal HbS and Hgb for exchange transfusions

A

HbS <30%
Hgb >10

48
Q

Indications for exchange transfusions in SCD (5)?

A

Acute stroke
ACS
Multiorgan failure
Intrahepatic cholestasis
Ocular vaso-occlusive events

49
Q

Mechanism of hydroxyurea

A

Increases HbF production, diluting HbS, vasodilation by NO release, improves RBC hydration, decreasing sickling, decreases adhesiveness of neutrophils

50
Q

Goal HbF level of hydroxyurea

A

HbF >20%

51
Q

Indications for hydroxyurea in SCD (3)

A

HbSS or HbS/B0 with severe symptoms: (>3 episodes/year, >3 ACS episodes in 2 years, severe or recurrent ACS)
Anemia w Hb <7
Other complications like pHTN like priapism

52
Q

Mechanism of Voxeletor and clinical result

A

Small molecule that binds to alpha chains of Hgb and keep it in relaxed state, resulting in increased affinity for oxygen and then an increased Hgb. Has not been proven to result in reduced clinical consequences

53
Q

Mechanism of action and clinical benefit of Crizanlizumab

A

IV administered P-selectin antibody that reduces frequency of vaso-occlusive crises

54
Q

What type of patient with SCD would benefit most from Voxeletor?

A

Low baseline hemoglobin

55
Q

What type of patient with SCD would benefit most from Crizanlizumab?

A

Frequent pain crises despite HU

56
Q

Mechanism of action of L-glutamine oral powder and clinical effect

A

Anti-oxidant increasing availability of reduced glutathione, reducing susceptibility to oxidative stress. Found to reduce hospitalizations, fewer days in hospital, fewer ACS episodes

57
Q

What is goal Hgb prior to surgery for patients with SCD?

A

Hgb 10 decreases complications

58
Q

Indications for pre-operative exchange transfusion?

A

Prior to high-risk surgeries like intracranial CVS, intrathoracic, abdominal surgeries, or prolonged surgeries

59
Q

What treatments for SCD cannot be given to a pregnant patient?

A

Hydroxyurea

Classical Hematology (15 decks)

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