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Molecular Diagnostics > Beta Thalassemia > Flashcards

Beta Thalassemia Flashcards

1
Q

What is Beta thalassemia?

A

Beta thalassemia is an inherited blood disorder characterized by reduced production of hemoglobin.

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2
Q

True or False: Beta thalassemia is caused by a mutation in the HBB gene.

A

True

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3
Q

What type of hemoglobin is affected in Beta thalassemia?

A

Beta globin

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4
Q

What are the two main types of Beta thalassemia?

A

Beta thalassemia major and Beta thalassemia intermedia

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5
Q

Which type of Beta thalassemia requires regular blood transfusions?

A

Beta thalassemia major

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6
Q

What is the treatment for Beta thalassemia major?

A

Regular blood transfusions and chelation therapy

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7
Q

What is the main symptom of Beta thalassemia?

A

Anemia

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8
Q

What is the most common form of treatment for Beta thalassemia intermedia?

A

Folic acid supplements

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9
Q

What is the prevalence of Beta thalassemia in Mediterranean countries?

A

High

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10
Q

What is the risk of Beta thalassemia carriers passing the gene to their children?

A

25%

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11
Q

True or False: Beta thalassemia carriers are usually asymptomatic.

A

True

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12
Q

What is the average life expectancy of individuals with Beta thalassemia major?

A

Reduced, without treatment

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13
Q

What is the main cause of death in individuals with Beta thalassemia major?

A

Iron overload

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14
Q

What is the genetic inheritance pattern of Beta thalassemia?

A

Autosomal recessive

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15
Q

What is the role of hemoglobin in the body?

A

To carry oxygen to tissues and organs

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16
Q

What is the main difference between Alpha and Beta thalassemia?

A

The affected globin chain

17
Q

What is the term for the excessive iron buildup in the body due to regular blood transfusions?

A

Iron overload

18
Q

What is the recommended therapy to reduce iron overload in Beta thalassemia patients?

A

Chelation therapy

19
Q

What is the primary goal of treatment for Beta thalassemia?

A

To maintain hemoglobin levels and prevent complications

20
Q

What is the main symptom of iron overload in Beta thalassemia?

A

Organ damage

21
Q

What is the term for the formation of new blood vessels in response to chronic anemia in Beta thalassemia?

A

Extramedullary hematopoiesis

22
Q

What is the most common cause of death in Beta thalassemia patients?

A

Heart failure

23
Q

What is the term for the enlargement of the spleen in Beta thalassemia patients?

A

Splenomegaly

24
Q

What is the risk of having a child with Beta thalassemia major if both parents are carriers?

A

25%

Molecular Diagnostics (2 decks)

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