Thalassemia Flashcards

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1
Q

A child is diagnosed with antenatal hydrops and thalassemia. What category of thalassemia must they have? (alpha or beta)

A

Alpha thalassemia

can’t make adequate HbF = A2G2

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2
Q

HbA

A

A2Beta2

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3
Q

HbA2

A

A2Delta2

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4
Q

HbF

A

A2Gamma2

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5
Q

When do babies with beta thalassemia become symptomatic?

A

6-12 months of life (after HbF drops)

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6
Q

Clinical features of severe thalassemia

A
Thalassemia facies (maxilla hypoplasia, frontal bossing, flat nasal bridge)
Pathologic fractures
Hepatosplenomegaly
Cachexia
Poor growth
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7
Q

Side effects of iron chelators

A

hearing loss
peripheral neuropathy
poor growth

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8
Q

Two major systems affected by iron overload

A

Endo (hypopituitarism)

Cardiac (CHF, arrhythmias)

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9
Q

clinical phenotype of

–A/AA

A

clinically silent!

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10
Q

What is this called, and what population is it most common in?

–A/–A

A

Trans alpha thalassemia trait

most common in people of african descent

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11
Q

What is this called, and what population is it most common in?

—-/AA

A

Cis alpha thalassemia trait deletion

most common in Asian or Mediterranean populations

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12
Q

– – / – A

What does this result in?

A

Alpha thalassemia 3 gene deletion causes formation of Hb Barts (gamma globin tetramers) and Hb H (beta globin tetramers) resulting in hemolysis and severe microcytosis

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13
Q

Ways to treat HbH alpha-thal?

A

Folate supplementation

Splenectomy may decrease hemolysis (improve Hgb)

If < 15 yrs old and have matched sib donor, consider HSCT

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14
Q

Alpha globin gene:
– –/– –

What does this result in?

A

No normal hemoglobins are produced - causes severe fetal anemia, hydrops. Usually fatal

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