Thalassemia Flashcards Preview

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Flashcards in Thalassemia Deck (14)
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1

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

Alpha thalassemia

(can't make adequate HbF = A2G2)

2

HbA

A2Beta2

3

HbA2

A2Delta2

4

HbF

A2Gamma2

5

When do babies with beta thalassemia become symptomatic?

6-12 months of life (after HbF drops)

6

Clinical features of severe thalassemia

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

7

Side effects of iron chelators

hearing loss
peripheral neuropathy
poor growth

8

Two major systems affected by iron overload

Endo (hypopituitarism)
Cardiac (CHF, arrhythmias)

9

clinical phenotype of
--A/AA

clinically silent!

10

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

--A/--A

Trans alpha thalassemia trait

most common in people of african descent

11

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

----/AA

Cis alpha thalassemia trait deletion

most common in Asian or Mediterranean populations

12

-- -- / -- A
What does this result in?

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

13

Ways to treat HbH alpha-thal?

Folate supplementation

Splenectomy may decrease hemolysis (improve Hgb)

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

14

Alpha globin gene:
-- --/-- --

What does this result in?

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