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SALMAN HARRISON'S > 94- Disorders of Hemoglobin > Flashcards

94- Disorders of Hemoglobin Flashcards

1
Q

What are the 5 types of hemoglobinopathies?

A
  1. Structural (sickle cell anemia)
  2. Thalassemias
  3. Thalassemias variants
  4. Hereditary persistence fetal hemoglobin (HPFH)
  5. Acquired hemoglobinopathy
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2
Q

Hemoglobinopathy has an ___ inheritance pattern

A

Autosomal co-dominant

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3
Q

High performance liquid chromatography (HPLC) has taken the place of ___ in most labs. If the result is inconclusive refer to ____

A

Electrophoresis

Full DNA analysis

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4
Q

The most common structural hemoglobinopathy is ____

A

Sickle cell anemia

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5
Q

Sickle cell anemia is caused by a mutation in the beta globulin gene, changing the 6th amino acid from ___ to ____, resulting in ___.

A

Glutamic acid
Valine
Hbs

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6
Q

What are the 4 main clinical manifestations of sickle cell anemia?

A
  1. Hemolytic anemia
  2. Vaso-occlusive crisis
  3. Acute chest syndrome
  4. Sub chronic damage
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7
Q

Hemolytic anemia is common in sickle cell anemia patients with ____ of 15-30%, and significant ____. It is common to see ___. Pay attention the the __ count which can vary greatly

A

hct
Reticulocytosis
granulocytosis
white

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8
Q

Vaso-occlusive event in sickle cell anemia can last between ____ to ____. Recurrent events (>____) are in correlation with worse prognosis and require ____.

A

Hours
Weeks
3 per year
Admission

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9
Q

Vaso occlusive events can be triggered by: (6)

A
  1. Infections
  2. Fever
  3. Intense physical activity
  4. Anxiety
  5. Temperature changes
  6. Hypoxia
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10
Q

In sickle cell anemia, the spleen is prone to micro vaso occlusion and will stop functioning usually in the first ____ months of life. Acute blockage of the splenic vein is referred to as splenic __ crisis

A

18-36

sequestration

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11
Q

An acute obstruction of the splenic vein (____) in early childhood (rare), may lead to an emergency ____ and/or ____

A

Splenic sequestration crisis
Infusion
Splenectomy

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12
Q

Beside the spleen, other sites prone to vaso occlusive damage in sickle cell anemia patients include: (5)

A
  1. Retina (retinal detachment)
  2. Kidney (Renal papillary necrosis)
  3. Bone ischemia
  4. Hand-foot syndrome
  5. Priapism
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13
Q

Acute chest syndrome in sickle cell anemia patients is characterized by ___, ___, __, ___, and___.

A 
Chest pain
Tachypnea
Fever
Cough
De-saturation
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14
Q

Acute chest syndrome is commonly accompanied with ___ and ___. Recurrent events suggest ____

A

PE
Pneumonia
worse prognosis

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15
Q

Patients with ____ thalassemia (____) tend to have less severe clinical manifestations

A

Sickle cell

Sickle - HbE

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16
Q

Sickle cell anemia ____ are mostly ____ and ____ are usually rare. Unpainful hematuria is uncommon but diagnostic symptom, present in ____

A

Carriers
Asymptomatic
Painful crisis
Adolescents males

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17
Q

Sickle cell anemia is to be suspected when ___ is found, together with typical __ morphology and episodes of ___.

A

Hemolytic anemia
RBC
ischemic pain

18
Q

The factors related to worse prognosis in SC anemia are: (4)

A
  1. > 3 crisis a year
  2. Chronic neutrophilia
  3. Splenic sequestration crisis/ hand-foot-syndrome
  4. More than 2 acute chest syndrome events
19
Q

SC anemia patient with ___ history are in higher risk for recurrent episodes and require ___ and ___

A

CVA
Blood transfusion
Doppler scanning

20
Q

Treating acute painful event in SC anemia patients include the following: (5)

A
  1. Hydration
  2. Thorough assessment for the reason
  3. Aggressive analgesia (patient controlled analgesia)
  4. Nasal O2
21
Q

Most crisis resolve within ____, and ___ should be withheld unless extreme situations are in place, since it does not ____

A

1-7 days
Blood transfusion
Shorten the length of the crisis

22
Q

Acute chest syndrome is an ____ and may require ___. Hydration should be monitored to prevent __. We look out for ____ and ____. Critical intervention should include __ to maintain Hct > 30 and ___ transfusion if the arterial saturation < __%

A 
Emergency
ICU
edema 
Pneumonia 
PE
blood
exchange
90
23
Q

SC anemia patients with severe symptoms may require life long therapy of ____. It raises the level of ___

A

Hydroxyurea

Fetal hemoglobin

24
Q

BM transplantation can ___ but is effective and safe only in ___.

A

Cure

Children

25
Q

Diagnosis of SC anemia is confirmed by Hb __, __, and __ tests. Complicated heterozygotes may present the disease only when approaching ___ or going through ___

A 
electrophoresis
spectroscopy 
sickling
adolescence
pregnancy
26
Q

Thalassemia is an ___ disorder, where the production of __/__/__-globin are disturbed

A

inherited
alpha
beta
gamma

27
Q

__chromic and __cytosis characterize all types of __ thalassemia.

A

hypo
micro
beta

28
Q

The increased BM inhibits growth and development, giving children ___ face and frontal __. __bone fractures are also common

A

chipmunk
bossing
pathological

29
Q

Hemolytic anemia leads to ___, leg __, ___, and __ with high output.

A

hepatosplenomegaly
abscess
cholelithiasis
HF

30
Q

What are the 3 types of beta thalassemia?

A

major
intermedia
minor/trait

31
Q

Major beta thalassemia require __ to survive. diagnosis is made during __ based on severe __ and typical signs of ineffective erythropoiesis (3)

A

transfusion
childhood
anemia
hepatosplenomegaly/ microcytosis/ high HbF or HbA2

32
Q

Management of major beta thalassemia includes: 5

A 
chronic transfusion
splenectomy
folic acid 
pneumovax 
leg abscess monitoring
33
Q

Major beta thalassemia should undergo endocrine assessment, looking for __ intolerance, decreased __ function, late __

A

glucose
thyroid
puberty

34
Q

Beta thalassemia intermedia may survive without chronic __, but should be monitored for __ due to (3)

A 
transfusion
anemia
infection
puberty
splenomegaly
35
Q

Beta thalassemia minor/trait are __. They usually present significant __ with __chromic __ cells and slight __.

A 
asymptomatic
microcytosis
hypo
target
anemia
36
Q

What are the _ types of alpha thalassemia?

A 
4
1 traits
2 trait
HbH
Hb Barts
37
Q

Alpha thalassemia 1 traits is when one of the loci of alpha globin is deleted. The patients are __.

A

asymptomatic

38
Q

Alpha thalassemia 2 traits is when 2 of the loci of alpha globin are deleted. Patients present symptoms similar to __ thalassemia- slight __ and __ without __

A

beta
hypochromia
microcytosis
anemia

39
Q

HbH disease is when _ loci are deleted. Patients will have __ thalassemia (__ anemia, ineffective __). Management is similar to beta thalassemia intermedia (2), avoid oxidizing drugs.

A

intermedia
hemolytic
erythropoiesis
splenectomy/transfusion

40
Q

Hb Barts is when _ loci are deleted- resulting in __ __.

A

4

hydrops fetalis

41
Q

Patients with hemolytic anemias may suffer from a decrease in Hct during/post infection. __ crisis is characterized in fast decrease of __. It is usually self contained and resolves __ within - weeks. It is common in ___ infection. If the anemia becomes symptomatic- __

A 
aplastic
Hct
spontaneously
1-2
parvovirus B19A
transfusion

SALMAN HARRISON'S (163 decks)

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