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Hematology > 10.10.18 Hemoglobinopathies > Flashcards

10.10.18 Hemoglobinopathies Flashcards

1
Q

genetically heterogeneous conditions resulting from imbalance between the amounts of alpha and beta globin chains that are synthesized

A

Thalassemia

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2
Q

How are thalassemia’s classified?

A
  1. Severity of clinical manifestations
  2. Major hemoglobin species formed
  3. Genotype
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3
Q

If a mutation causes absent beta globin synthesis

A

B0 thalassemia

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4
Q

If a mutation has decreased (but still present) beta globin synthesis

A

B+ thalassemia

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5
Q

What region is beta thalassemia most common in?

A

Southern Europe (Also SE Asia, Africa, Middle East)

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6
Q

What is the genotype for Cooley’s Anemia

In which population is it typically seen in?

How would you diagnose?

A

B0/B0; B Thalassemia major

Mediterraneans

Hb electrophoresis

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7
Q

What are the symptoms of homozygous beta thalassemias?

A
  1. Ineffective erthropoiesis
  2. Destruction of produced RBC
  3. Splenomegaly
  4. Skeletal deformaties
  5. Iron overload- transfusions; iron hyperabsorption
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8
Q

Hemolysis of red cell precursors inside the marrow

A

Intramedullary hemolysis

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9
Q

Heterozygoies state where one allele is normal and the other allele is Beta +; enough beta to pair with alpha so not so many a4 tetramers

A

Beta thalassemia minor (trait)

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10
Q

What are the lab findings in beta thalassemia?

A
  1. Microcytic
  2. May or may not be anemic (if present it is mild)
  3. RBC count elevated
  4. Normal RDW
  5. Higher HbA2 levels
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11
Q

Characteristics of this alpha thalassemia include:

  • typically silent
  • minimal microcytosis
  • anemia not present
  • electrophoresis normal
A

aa/a-

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12
Q

Characteristics of this alpha thalassemia include:

  • Mildly anemic
  • Microcytosis
  • Hgb electrophoresis normal in adults; abnormal in newborns
A

aa/– and a-/a-

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13
Q

What population has aa/– and which population has a-/a-

A

a-/a- : AA

aa/–: Asians

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14
Q

Characteristics of this alpha thalassemia include:

  • Hemoglobin H = B4 tetramers
  • Heinz bodies –> bite cells –> hemolytic anemia
  • Splenomegaly
  • Low MCV and MCH, high RDW
A

a-/–

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15
Q

Characteristics of this alpha thalassemia include::

  • Hydrops fetalis
  • Hemoglobin barts = Gamma4 tetramers
  • Intrauterine death; treated in utero
A

–/–

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16
Q

Disorder in which sixth aa in beta chain is changed from glutamate to valine; less soluble and polymerizes

A

Hemoglobin S

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17
Q

Disorder in which sixth aa in beta chain is changed from glutamate to lysine; leads to increased cellular dehydration and founnd in West African descent

A

Hemoglobin C

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18
Q

Under what conditions do HbS polymerize and cause cells to sickle?

A

Hypoxia and acidosis

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19
Q

How do multiple cycles of sickling/unsickling affect the cell?

A

Leads to cellular dehydration which reduces threshold for further sickling

20
Q

What cells have abnormal adhesion to endothelial cells?

A

Sickle cells

21
Q

What genotypes are classified as sickle cell disease vs anemia?

A

Anemia= homozygous SS

Disease= SC, S beta thalassemia

22
Q

What are the types of sickle cell crises?

A
  1. Splenic sequestration crisis
  2. Aplastic crisis
  3. Painful (vaso-occulusive) crisis
23
Q

In children, rapid and extensive trapping of RBC in spleen;

profound anemia, massive splenomegaly, hypovolemic shock

A

Splenic sequestration crisis

24
Q

Parovirus B19 leads to marrow suppression with rapid development of anemia (but not so fast as in sequestration crisis)

A

Aplastic crisis

25
Most common type of sickle cell crises Periodic episodes of acute vascular occlusion Attacks of pain usually affecting bones and large joints
Painful (Vaso-occulusive) crisis
26
What are the hematologic manifestations of sickle cell?
1. Anemia 2. Leukocytosis 3. Throbocytosis 4. Functionally asplenic 5. Thromboses- risk for venous clots
27
What are triggers of painful crisis?
1. Exercise 2. Dehydration 3. Infection 4. Cold 5. Stress 6. Menstruation 7. Surgery/trauma 8. Pregnancy
28
How do you manage painful crisis
1. Treat underlying infection 2. Treat pain 3. Supplement oxygen 4. Folate replacement 5. Replace fluid if dehydrated
29
What are you at risk for infection with in sickle cell?
Encapsulated organisms
30
If undergoing iron chelation therapy in sickle cell what are you at risk for?
Yersinia or Vibrio organisms
31
What can cause osteomyelitis and septic arthritis?
Salmonella osteomyelitis
32
most common cause of death in patients with sickle cell disease Hypoxemia, New infiltrate on CXR, New fever, chest pain, dyspnea or cough
Acute Chest Syndrome
33
What are respiratory complications associated with sickle cell?
1. Acute Chest Syndrome | 2. Pulmonary Hypertension
34
What are the causes of acute chest syndrome
1. Infection with atypical organisms- chlamydia and mycoplasma 2. Fat embolism from necrotic bone marrow
35
How do you treat acute chest syndrome?
Antibiotics, oxugen, Transfusion (simple or exchange)
36
Not due to atherosclerosis but because of disordered blood vessels; occurence at 5 yo
Stroke
37
How do you treat stroke acutely and chronically?
Acute- exchange transfusion Chronic- chronic regular transfusion
38
This type of transfusion gives red cells
Simple
39
This type of transfusion takes old red cells out while putting new red cells in
Exchange
40
What are complications of transfusion in SCD?
1. Iron overload | 2. Allo-immunization
41
What organs are damaged with iron overload and how do you treat?
heart, liver, and endocrine Treat with chelation
42
How do you prevent allo-immunization?
Transfuse with blood negative for C, E, and Kell groups
43
What are complications occur in SCD?
1. Renal 2. Leg ulcers 3. Avascular Necrosis (AVN) 4. Priapism
44
What should you treat SCD with?
Hydroxyurea
45
What are the effects of hydroxyurea?
1. Increases baseline Hb 2. Reduces sickle crises 3. Reduce acute chest syndrome 4. Prevents pulmonary hypertension 5. Reduces mortality
46
What are hallmarks of Hb C Disease?
1. Microcytosis 2. Target cells 3. Splenomegaly

Hematology (23 decks)

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