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Hematology Exam 1 > Hemoglobinopathies > Flashcards

Hemoglobinopathies Flashcards

1
Q

Usually with beta thal trait, one allele is normal and the other is ___

A

B+

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2
Q

How would you treat a stroke in someone with sickle cell disease?

A

Exchange transfusion; Transfuse children in order to PREVENT the stroke

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3
Q

Should you supplement iron in a patient with beta thal major?

A

NEVER

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4
Q

How do you treat acute chest syndrome?

A

Antibiotics, oxygen, simple or exchange transfusion to lower the HbS concentration

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5
Q

Target cells and what other unique type of findings are on a blood smear of someone with Hb C disease?

A

Hb C crystal

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6
Q

1/3 of patients with sickle cell will have had a ____ ____ by the time they are 30

A

Venous clot

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7
Q

a-/–; 3 alpha deletion

A

Hemoglobin H disease

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8
Q

Hydrops fetalis alpha globin genotype

A

–/–

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9
Q

Sickle cells are sticky and tend to attached to _____ cells

A

Endothelial

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10
Q

With an infant with Cooley’s Anemia, will it be symptomatic at birth?

A

No, because has not switched from the gamma to beta gene yet; symptoms emerge after ~ 6 mo

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11
Q

HbSB+ is milder/worse than HbSS

A

Milder

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12
Q

What is the most common cause of death in patients with sickle cell disease?

A

Acute chest syndrome

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13
Q

People with iron overload due to hyper absorption in the gut are more susceptible to infection with ____ spp., ____ and should avoid eating raw _____

A

Vibrio, mucor, shellfish

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14
Q

Iron overload may cause ____, ____, and endocrine failure

A

heart, liver

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15
Q

HbC substitution switches glu to __

A

lys at 6th aa

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16
Q

HbS substitution switches glu to __

A

val at 6th aa

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17
Q

Hb Bart’s

A

gamma4 tetramers in newborns; seen in alpha thal

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18
Q

In an adult, one unit of blood raises the Hb level by __

A

1

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19
Q

In a patient with sickle cell anemia with an acute drop in baseline Hb, should look for infection of what virus?

A

Parvovirus B19

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20
Q

Adult sickle cell patients do or do not have a spleen

A

Do not; it has infarcted

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21
Q

SE Asians have which alpha thalassemia?

A

aa/–

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22
Q

Splenic sequestration crisis

A

When a child has sickle cells sequestered in the outflow of the spleen that causes splenomegaly, increased drop in Hb and very low BP

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23
Q

Patients with sickle cell anemia and sickle cell trait are at an increased risk for ____ clots

A

Venous

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24
Q

HbC leads to increased

A

Cellular dehydration

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25
Q

In a newborn who has alpha thal, what will the gel electrophoresis be like?

A

It will be abnormal due to the production of gamma4 tetramers (Hb Bart’s)

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26
Q

The _____ ion channel is activated abnormally in sickle cell disease and that leads to ____ _______

A

Gardos; cellular dehydration

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27
Q

What are some respiratory complications in sickle cell disease?

A

Acute chest syndrome and pulmonary hypertension

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28
Q

How do you treat iron overload?

A

Iron chelation therapy

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29
Q

In patients with sickle cell anemia, when the Hb falls below the baseline, should look for what causes?

A
  • Infection with parvovirus B19
  • Splenic or hepatic sequestration
  • Acute chest syndrome
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30
Q

If someone has beta thal trait, what are some lab findings?

A
  • very microcytic, so low MCV (~70)
  • high RBC
  • normal RDW
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31
Q

As soon as you find out someone has beta thal major, what are the steps to take?

A

Transfusion and iron chelation therapy

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32
Q

What are the effects of hydroxyurea?

A
  • Increases baseline Hb values
  • Reduces the number of sickle crises
  • Reduces episodes of acute chest syndrome
  • Prevents pulmonary hypertension
  • Saves lives
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33
Q

What is the most common crisis that occurs in sickle cell patients?

A

Painful (vaso-occlusive) crisis

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34
Q

Aplastic crisis

A

Parvovirus B19 leads to bone marrow suppression that leads to rapid development of anemia

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35
Q

In B-thalassemia major, alpha globin tetramers are formed and they produce _____ bodies and cause destruction of red cells in periphery and in the marrow

A

Heinz

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36
Q

Give 2 units of blood to someone with Hb of 6 means they should then have Hb of __

A

8

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37
Q

What is the cause of stroke in children with sickle cell disease?

A

NOT atherosclerosis; Due to disordered blood vessels

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38
Q

In sickle cell patients, sepsis may occur from _____ organisms and if undergoing iron chelation therapy are at increased risk of infection with ____ or Vibrio organisms

A

encapsulated; Yersinia

39
Q

Other complications in sickle cell disease

A
  • Renal
  • Leg ulcers
  • Avascular necrosis (AVN)
  • Priapism (can lead to permanent erectile dysfunction)
40
Q

How does hydroxyurea work?

A

Increases amount of HbF and that decreases the concentration of HbS

41
Q

In thalassemias, you generally have full deletions of ___ genes or point mutations in ____ genes

A

alpha; beta

42
Q

On gel electrophoresis, which Hb is the most positive and which is the most negative

A

Pos: HbF
Neg: HbA

43
Q

Beta thalassemias are mainly seen in what part of the world?

A

Mediterraneans

44
Q

aa/a-; one alpha deletion is typically _____

A

asymptomatic

45
Q

Who can never take hydroxyurea?

A

Pregnant women

46
Q

Children with beta thal major either die from iron-overload causing organ failure or _____ ____

A

overwhelming anemia

47
Q

B-thalassemias are most common in southern _____

A

Europe; Greece and Italy

48
Q

T/F; you can only give a patient with acute chest syndrome an exchange transfusion

A

False

49
Q

Pulmonary hypertension occurs in about ___ of sickle cell diseased adults

A

1/3

50
Q

What is an effective oral treatment for sickle cell?

A

Hydroxyurea

51
Q

Beta thal major and Hemoglobin H disease create what kind of tetramers, respectively?

A

Alpha4 and Beta4

52
Q

A patient presents with new infiltrates on CXR and an O2 sat of 82%. How would you treat them?

A

With antibiotics, oxygen, simple or exchange transfusion

53
Q

How could you diagnose Beta thalassemias major?

A

Gel with alpha tetramers present and absence or marked deficiency in HbA

54
Q

Triggers of painful crisis

A
  • Exercise
  • Dehydration
  • Infection
  • Cold
  • Stress
  • Menstruation
  • Surgery/trauma
  • Pregnancy

EDICSMSP; “ED is Complaining of Some Major Sickle Pain”

55
Q

HbSC= sickle cell _____

A

disease

56
Q

Side effect of hydroxyurea

A

Bone marrow suppression

57
Q

Children with sickle cell anemia need to be on ______ prophylaxis bc their ____ is dysfunctional

A

Penicillin; spleen

58
Q

What is an exchange transfusion?

A

Put in a catheter and take out old red cells and then replace with new red cells over and over again and titrate to a certain percentage of HbS

59
Q

What is the predominant chain formed in place of the alpha chain in hydrops fetalis?

A

Hb Bart’s; gamma4 tetramer

60
Q

The degree of ____ chain excess determines the severity of a thalassemia

A

Alpha

61
Q

What is the only current cure for sickle cell disease?

A

Bone marrow transplant

62
Q

What are the 2 complications in transfusing someone with sickle cell disease?

A
  • Iron overload

- Allo-immunization

63
Q

Main etiologies of acute chest syndrome

A
  • Infection- especially with atypical organisms such as chlamydia or mycoplasma
  • Fat embolism from necrotic bone marrow
64
Q

What blood groups should be avoided in transfusions for African Americans?

A

C,E, Kell

65
Q

Autosplenectomy from splenic infarct occurs in sickle cell patients and that leads to increased susceptibility to _______ organsims

A

encapsulated

66
Q

In children, rapid and extensive trapping of RBCs in the ____ cause massive enlargement, profound anemia (steep drop in Hb) and hypovolemic shock

A

spleen

67
Q

African Americans tend to have which alpha thal?

A

a-/a-

68
Q

Sickle cell disease is one of the most frequent causes of pulmonary ________

A

Hypertension; blood cannot get from the heart to the lungs

69
Q

aa/– and a-/a-; two gene deletions have ____ anemia and are microcytic with a ___ of around 70

A

mild; MCV

70
Q

Alpha tetramers are unstable and lead to intramedullary hemolysis and what else?

A

Destruction of produced RBCs

71
Q

What is a simple transfusion?

A

Giving red cells

72
Q

HbSS = sickle cell _____

A

anemia

73
Q

How would you treat hydrops fetalis?

A

Intrauterine exchange transfusion and bone marrow transplant

74
Q

What is the median age for stroke in children with sickle cell disease?

A

5 years old

75
Q

Where is the pain during a painful crisis in sickle cell anemia?

A

Bones and large joints

76
Q

Sickle cell anemia is a problem of production/destruction

A

Destruction –> hemolysis

77
Q

Other possible etiologies of acute chest syndrome

A
  • Sequestration of sickle cells
  • Pulmonary infarction
  • Hypoventilation from rib infarct, narcotic administration
  • Pulmonary edema
78
Q

Cooley’s Anemia has what arrangement of B-globin genes?

A

B0/B0; most severe

79
Q

How do you treat a painful crisis?

A

Treat the underlying infection if necessary, treat the pain, supplement O2, folate supplement, fluids is dehydrated (watch for pulmonary edema)

80
Q

Symptoms of Beta thalassemia major may include:

A
  • Anemia
  • Splenomegaly
  • Bone deformities
  • Iron overload associated symptoms (bronze skin, liver failure, endocrine failure)
81
Q

Hemoglobin H=

A

B4 tetramers; these form Heinz bodies and cause hemolysis

82
Q

Patients with this condition are functionally apslenic and more susceptible to infections with encapsulated organisms

A

Sickle cell anemia

83
Q

What are 3 common sickle cell crises

A
  1. Splenic sequestration crisis
  2. Aplastic crisis
  3. Painful (vaso-occlusive) crisis

**SAP

84
Q

In sickle cell anemia, the cells eventually may become irreversibly _____ and obstruct small blood vessels

A

sickled

85
Q

Definition of acute chest syndrome

A
  • Hypoxemia
  • New infiltrates on CXR
  • New fever, chest pain, dyspnea, or cough
86
Q

With a stroke, what type of transfusion must be used?

A

Exchange

87
Q

______ can worsen acute chest syndrome

A

Pneumonia

88
Q

When transfusing, the Hb value should not get about __

A

10

89
Q

Hemoglobin H disease will have what kind of cells present on the smear that is produced from Heinz bodies?

A

Bite cells

90
Q

In an adult who has alpha thal, what will the gel electrophoresis be like?

A

It will be normal

91
Q

HbSC genotype of sickle cell disease causes more intracellular _______ and worsening sickling

A

dehydration

92
Q

What is the order of gene switching at the Beta-like globin gene locus?

A

Gamma –> Delta –> Beta

93
Q

Salmonella ______ is unique to what disease?

A

Osteomyelitis; Sickle cell

94
Q

In a gel electrophoresis of a patient with beta thal trait, there will be an increase in which band?

A

HbA2 bc there is an upregulation of the delta chain in the absence of the beta chain

Hematology Exam 1 (16 decks)

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