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Heme and Lymph Exam 2 > Thalassemia - SRS > Flashcards

Thalassemia - SRS Flashcards

1
Q

Describe the RBC count you will find in thalassemias.

What about the Hgb?

A

RBC count will be normal

Hgb will be low

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2
Q

Interpret this CBC.

A

Hemoglobinopathy, Thalassemia

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3
Q

If you hear a patient is from S.E. asia, with a hemoglobinopathy what should you think?

A

Hemoglobin E

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4
Q

What is the structure of hemoglobin A composed of?

A

Tetramer of 4 globin chains and 4 heme molecules

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5
Q

The beta thalassemias are caused by mutations that diminish synthesis of Beta globin chains.

What are the types of mutations?

Describe the Beta chain levels in each.

A

B0 - Zero beta chains, absent b-globin synthesis

B+ - reduced, but detectable b-globin synthesis

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6
Q

What are the two mechanisms tha impaired B-globin synthesis results in anemia by?

A

underhemoglobinization - suboptimal O2 transport capacity

Diminished RBC survival d/t imbalance in alpha and beta globin synthesis

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7
Q

What are four major pathological problems that arise in beta thalassemia?

A
  1. Ineffective erythropoiesis
  2. extravascular hemolysis
  3. skeletal deformities
  4. systemic iron overload
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8
Q

In severe beta thalassemia what percent of red cell precursors make it out of the marrow?

A

Only 15 - 30% make it out. The rest die.

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9
Q

For the small fraction of RBC precursors that do escape the marrow, what problems do they have and what is the likely consequence?

A

They bear inclusions and membrane damage, thus they are prone to splenic sequestration and extravascular hemolysis

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10
Q

Beta thal major (B0 most often) is severe. What do these patients need to do regularly?

A

undergo transfusions

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11
Q

Describe the severity of B-Thal intermedia.

Are transfusions required?

A

Severe, but no regular transfusions

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12
Q

Characterize the severity of B thal minor.

A

Asymptomatic with mild or absent anemia.

Red cell abnormalities seen

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13
Q

When does B-thal major manifest?

A

6-9 months after birth, when Hbf switches to HbA

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14
Q

What are Hemoglobin levels in an untransfused b-thal major patient?

A

3-6 gm/dL

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15
Q

What is shown here?

A

X-ray of a skill of a b-thal patient showing new bone formation producing perpindicular radiations resembling a crew cut. Excessive compensatory hematopoiesis

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16
Q

What is going on with this kid?

A

Cheek bones are deformed d/t extraperiosteal growth to accomodate increased hematopoiesis.

PAtient also has secondary hemochromatosis d/t increased iron absorption post hemolysis

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17
Q

What does this patient have?

What would you possibly see on peripheral blood smear?

A

B-thal minor

smear = RBC abnormalities, microcytosis, basophilic stippling, and target cells

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18
Q

Recognition of B-thal trait is important for what two reasons?

A
  1. resembles hypochromic microcytic anemia of iron deficiency
  2. implications for genetic counseling.
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19
Q

How can you differentiate between anemia of iron deficiency and b-thal minor?

A

Does not improve with iron

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20
Q

If a patient is genotype -/-,alpha/alpha

What is their alpha thalassemia status?

A

Thalassemia trait - two deletions

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21
Q

If a patient has three alpha-globin deletions what do we call their condition?

A

Hemoglobin H disease

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22
Q

If someone has loss of four alpha-globin genes then they have what?

A

Hydrops fetalis/hemoglobin Barts - and they die

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23
Q

If a patient has one alpha globulin gene lost then they are?

A

A silent carrier

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24
Q

What is described here?

Diminished production of alpha globin and patient is normal

A

Silent carrier

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25
Q

What is described here?

Severe anemia, requiring RBC transfusion to survive. Untreated = death in childhood/early adolescence. Beta chains (in great excess) begin to associate in tetramers, producing an abnormal hemoglobin.

A

Hemoglobin H disease

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26
Q

What is described here?

clinically asymptomatic but microcytic red cells and at most mild anemia. Decreased alpha globulin production

A

Alpha thalassemia trait

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27
Q

What does this image indicate the patient has?

A

Hemoglobin H - note the golf ball inclusions indicated by the arrow

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28
Q

What is the story here?

A

loss of all four alpha globin genes = hydrops fetalis and death

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29
Q

52 yo male with acute abdominal pain has this CT scan. What should you think of?

How do you test?

A

Paroxysmal nocturnal hematuria - see thrombosis in odd places, such as the portal vein shown here.

Order CD55 and CD59 flow cytometry

(can also do Sucrose water and Ham’s test but he says this one sucks)

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30
Q

What does this flow cytometry indicate?

A

The patient has lost CD59 and 55 from their RBCs, which normally sweep complement off the cells preventing lysis. This is indicative of PNH

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31
Q

What causes PNH?

A

Acquired (only acquired hemolytic anemia) mutations in phosphatidylinositol glycan complementation group A gene (PIGA)

32
Q

What is PIGA essential for?

A

Synthesis of certain membrane associated complement regulatory proteins

33
Q

In PNH the red cells that are deficient in the GPI-linked anticomplement factors are susceptible to what?

A

Lysis or injury by complement

34
Q

What type of hemolysis do we see in PNH?

A

Chronic intravascular hemolysis

35
Q

In what percent of cases is PNH nocturnal and paroxysmal?

A

only 25%, chronic hemolysis without dramatic hemoglobinuria is more typical.

36
Q

Why do RBCs lyse during sleep in PNH?

A

d/t slight drop in blood pH during sleep which increases the activity of complement

37
Q

This biopsy was taken from a PNH patient. Explain the findings seen here.

What impact does this have on the patient?

A

Prussian blue stain of the kidney tubules is positive for iron deposition d/t chronic hemolysis and hemosiderinuria (loss of heme iron in the urine).

Loss of iron exacerbates the anemia

38
Q

What is the leading cause of death in patients with PNH?

A

Thrombosis

39
Q

40% of PNH patients suffer from venous thrombosis often involving what veins?

A
  1. hepatic
  2. portal
  3. cerebral
40
Q

What do ~5 - 10% of PNH patients develop in the long run?

A

Acute myeloid leukemia

or

myelodysplastic syndrome

41
Q

What did this PNH patient develop?

What complications should we/they be worried about?

A

AML - note the AUER rods (although there would be a small chance of Refractory anemia of excess blasts type II, since auer rods are also present in that myelodysplastic syndrome, but for my money, AML)

DIC a common complication seen in AML (APL)

42
Q

How is PNH diagnosed?

A

Flow cytometry

43
Q

The role of complement in PNH has been proven by therapeutic use of eculizumab, which does what?

A

prevents conversion of C5 to C5a

44
Q

What therapeutic benefits does eculizumab confer?

A
  1. Decreases hemolysis and need for transfusions
  2. lowers risk of thrombosis by up to 90%
45
Q

What is the cause of primary warm antibody type autoimmune hemolytic anemia?

A

idiopathic

46
Q

What are three secondary causes of warm antibody type autoimmune hemolytic anemias?

A
  1. Autoimmune disorders - particularly SLE
  2. Drugs
  3. lymphoid neoplasms
47
Q

What type of antibodies are associated with the warm antibody type autoimmune hemolytic anemias?

A

IgG

48
Q

What type of antibodies are associated with the cold agglutinin type of autoimmune hemolytic anemia?

A

IgM

49
Q

What are two acute causes of cold agglutinin type autoimmune hemolytic anemias?

A
  1. Mycoplasma infection
  2. Infectious mononucleosis
50
Q

What are two causes of chronic cold agglutinin type autoimmune hemolytic anemia?

A

Idiopathic

Lymphoid neoplasms

51
Q

What type of antibodies are involved in the cold hemolysin type autoimmune hemolytic anemia?

A

IgG - active below 37 celsius

52
Q

What is the typical cause of cold hemolysis type autoimmune hemolytic anemia?

A

Is rare, occurs mainly in children following viral infections

53
Q

What is indicated by the A and B arrows in this patient with warm antibody type autoimmune hemolytic anemia?

A

A = spherocytes

B = reticulocytes

54
Q

What are the two big categories of drugs that cause warm type immunohemolytic anemia?

A

Antigenic drugs

tolerance-breaking drugs

55
Q

What are two specific antigenic drugs that cause immunohemolytic anemia?

A

penicillin and cephalosporins

56
Q

What is a specific tolerance breaking drug that causes immunohemolytic anemia?

What are the induced antibodies most commonly against?

A

Alpha-methyldopa

Antibodies commonly against Rh blood group antigens

57
Q

Warm antibody type immunohemolytic anemias are particularly difficult to treat. Why?

A

There is no compatible blood for transfusion. This is because the patient has antibodies against their own RBC’s, which will also react with all other human red cells.

58
Q

Where in the body do we see manifestations of the cold agglutinin type immunohemolytic anemias?

A

fingers, toes, ears

(think raynauds, I guess is what he was saying)

59
Q

Cold hemolysin antibodies are responsible for an unusual entity known as?

A

Paroxysmal cold hemoglobinuria

60
Q

What antigen do the cold hemolysin type antibodies bind to?

In what body regions does this go down?

A

P blood group antigen in cool peripheral regions of the body.

61
Q

In most cases of paroxysmal cold hemoglobinuria a child is affected following a viral infection. What is the prognosis?

A

In this setting the disorder is transient with those affected recovering within one month

62
Q

What is the antibody associated with cold hemolysin?

A

Donath-landsteiner antibody

63
Q

What is an infection associated with paroxysmal cold hemoglobinuria?

A

Syphilis

64
Q

What is causing this girl’s anemia?

A

SLE -> warm antibody type immunohemolytic anemia

65
Q

What do you see in this peripheral smear?

A

Schistocytes

66
Q

In what case do we see the most significant trauma to red cells?

A

Artificial mechanical cardiac valves (more so than bioprosthetic or porcine valves

67
Q

What type of hemolytic anemia can DIC cause?

A

Microangiopathic hemolytic anemia.

68
Q

What are 6 causes of microangiopathic hemolytic anemia?

A
  1. DIC (most common)
  2. Thrombotic Thrombocytopenic purpura (TTP)
  3. Hemolytic-uremic syndrome (HUS)
  4. Malignant HTN
  5. SLE
  6. Disseminated cancer
69
Q

What is the common feature of the disorders that cause microangiopathic hemolytic anemia?

A

Microvascular lesion that results in luminal narrowing often d/t the deposition of fibrin and platelets.

70
Q

What are three distinctive shapes that schistocytes can have?

A

Burr cells

Helmet cells

Triangle cells

71
Q

This patients peripheral blood smear showed fragmented RBCs, and the CBC showed that platlets were low. What is causing this?

A

DIC, bleeding and clotting at the same time

72
Q

This sample was from a rocky vista student who traveled to the gold coast on a medical mission. They returned with severe anemia with hemoglobin of 3 gm/dL. What is going on with them?

A

Malaria falciparum

73
Q

Young lady with a travel history comes in with mild hemoglobinopathy. Peripheral blood smear shows this. Another slide showed tetrad forms of the rings.

What is this?

A

Babesiosis - intracellar parasite, causes intravascular hemolysis

74
Q

What is this and what caused it?

A

Course basophilic stippling - Lead poisoning

75
Q

This plus anemia = ?

A

Sideroblastic anemia

76
Q

What are these?

A

Ringed sideroblasts

77
Q
A

Heme and Lymph Exam 2 (9 decks)

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