Brainscape's Knowledge GenomeTM


Top Flashcards (Certified)
All Flashcards

BH 2 > Hemoglobinopathies 2 > Flashcards

Hemoglobinopathies 2 Flashcards

1
Q

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

A

Normal

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

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

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

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

A

Sickle Cell Trait

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

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

A

HbSS

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

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

A

HSB0

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

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

A

HbSB+

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

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

A

HbSC

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

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

A

HbCC

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

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

A

HbC Trait (AC)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

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

A

HbS/HPHbF
*Hereditary Persistence of HbF

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

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

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

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

A

B+ is reduced expression and B0 is absence of expression

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
17
Q

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

A

HbA2 >3.5%

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
20
Q

What is Betibeglogene autotemcel?

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
21
Q

What is exagamglogene autotemcel?

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
23
Q

What is the goal hb in chronic transfusions for TDT?

A

9.5-10.5

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
24
Q

Hemoglobin E homozygosity has what clinical manifestations?

A

Asymptomatic, minimal anemia, low MCV

25
What hemoglobin migrates withA 2 and C in alkaline electrophoresis and migrates with A and A2 in acid on agarose gel?
Hemoglobin E
26
What hemoglobin migrates like HbS on alkaline electrophoresis and migrates like HbA ona cid electrophoresis
Hemoglobin Lepore
27
What is the clinical manifestations of Hb Lepore?
Moderate-severe anemia
28
What clinical manifestation is more common in HbSC disease compared to SCD?
Proliferative retinopathy
29
What is the phenotype of Sickle cell/alpha thalassemia?
Milder phenotype, milder anemia. Reduced incidence of leg ulcers, but increased incidence of osteonecrosis
30
What are clinical complications of sickle cell trait?
Not a disease. normal life span. but there are increased risk of renal medullary carcinoma and UTI in pregnancy
31
When is a RBC transfusion NOT indicated in treatment of sickle cell disease?
Uncomplicated acute pain
32
Clinical manifestations of acute chest syndrome
Fever and/or respiratory symptoms with new pulmonary infiltrate on CXR
33
Treatment of Acute chest syndrome?
Simple transfusion for those with Hb >2 below baseline, lobar involvement, hypoxemia, increasing O2 needs. Exchange transfusion for severe
34
Secondary prevention treatment options for ACS in sickle cell? (2)
Hydroxyurea Chronic transfusions
35
What screening test done in children predicts an increased risk of ischemic stroke in SCD?
Abnormal transcranial dopppler
36
Management of acute ischemic stroke in SCD (2)
Exchange transfusion Aspirin
37
2 treatment options for prevention of acute ischemic stroke in SCD?
Chronic transfusions and hydroxyurea
38
Primary prevention for acute ischemic CVA for children with abnormal transcranial doppler
Chronic transfusions to keep HbS <30% and Hb >9 for 1 year. Can switch to hydrea after 1 year or hydrea
39
Clinical manifestation of hyperhemolysis
Pain, marked hemolytic anemia often occurring within 1 week after RBC transfusion. Can be DAT positive or negative, low reticulocyte count
40
Management of hyperhemolysis
IVIG Steroids
41
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?
Splenic sequestration crisis RBC transfusion Splenectomy
42
painless hematuria or flank pain with hematuria in SCD should make you think of what complication?
Renal papillary necrosis
43
Patient with SCD presents witha cute protrusion of R eye, pain, lid/orbital edema. Diagnosis and treatment?
Orbital infarction. IV fluids, pain control, steroids
44
What is prognostic for patients with SCD and pHTN?
Abnormal TR jet velocity are at increased risk of mortality, should get RHC
45
Indications (7) for simple RBC transfusion
Symptomatic Pre-operative Transient RCA Splenic sequestration Hepatic sequestration Mild ACS Pain crises
46
At what hemoglobin level do you not increase above when transfusing a patient with SCD?
10
47
Goal HbS and Hgb for exchange transfusions
HbS <30% Hgb >10
48
Indications for exchange transfusions in SCD (5)?
Acute stroke ACS Multiorgan failure Intrahepatic cholestasis Ocular vaso-occlusive events
49
Mechanism of hydroxyurea
Increases HbF production, diluting HbS, vasodilation by NO release, improves RBC hydration, decreasing sickling, decreases adhesiveness of neutrophils
50
Goal HbF level of hydroxyurea
HbF >20%
51
Indications for hydroxyurea in SCD (3)
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
Mechanism of Voxeletor and clinical result
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
Mechanism of action and clinical benefit of Crizanlizumab
IV administered P-selectin antibody that reduces frequency of vaso-occlusive crises
54
What type of patient with SCD would benefit most from Voxeletor?
Low baseline hemoglobin
55
What type of patient with SCD would benefit most from Crizanlizumab?
Frequent pain crises despite HU
56
Mechanism of action of L-glutamine oral powder and clinical effect
Anti-oxidant increasing availability of reduced glutathione, reducing susceptibility to oxidative stress. Found to reduce hospitalizations, fewer days in hospital, fewer ACS episodes
57
What is goal Hgb prior to surgery for patients with SCD?
Hgb 10 decreases complications
58
Indications for pre-operative exchange transfusion?
Prior to high-risk surgeries like intracranial CVS, intrathoracic, abdominal surgeries, or prolonged surgeries
59
What treatments for SCD cannot be given to a pregnant patient?
Hydroxyurea

BH 2 (14 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2025 Bold Learning Solutions. Terms and Conditions