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Haematology > Thalassaemia > Flashcards

Thalassaemia Flashcards

1
Q

What is thalassaemia?

A

Genetic diseases of unbalanced Hb synthesis leading to underproduction or no production of one globin chain

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2
Q

What happens if all 4 alpha chain genes are deleted?

A

Death in utero

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3
Q

What happens if 3 alpha chain genes are deleted?

A

HbH disease

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4
Q

What happens if 2 alpha chain genes are deleted?

A

Asymptomatic carrier state with microcytic RBCs

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5
Q

What happens if 1 alpha chain gene is deleted?

A

Clinical state is normal

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6
Q

What clinical presentations will someone with BT minor have?

A

Usually asymptomatic, mild and well tolerated anaemia, hypochromic RBCs

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7
Q

What clinical presentations will someone with BT intermedia have?

A

Infections, gallstones, recurrent leg ulcers, bone deformities

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8
Q

What is BT major?

A

When someone has significant abnormalities in both globin genes

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9
Q

What clinical presentations will someone with BT major have?

A

Severe anaemia, failure to thrive, skull bossing, hepatosplenomegaly, osteopenia

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10
Q

What clinical presentations will someone with HbH disease have?

A

Moderate anaemia, splenomegaly

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11
Q

What would a BT blood film show?

A

Reticulocytosis, microcytic anaemia, nucleated RBCs n circulation

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12
Q

How do you manage BT major?

A

Life-long transfusions every 2-4 weeks

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13
Q

What do you give to try and prevent iron overload from transfusions?

A

Iron-chelators, large doses of ascorbic acid can also help by increasing the amount of iron excreted in the urine

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14
Q

What general management would you start for BT?

A

Fitness, healthy diet, folate supplements

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15
Q

What is a potential cure?

A

Marrow transplant

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16
Q

What complications can arise from iron overload?

A

Endocrine failure, liver disease, cardiac toxicity

17
Q

What is alpha thalassaemia?

A

Gene deletion of one or both alpha chains

18
Q

What is beta thalassaemia?

A

Excess alpha chains due to point mutations

19
Q

How would you manage alpha thalassaemia?

A

Transfusions during crises, desferrioxamine to aid iron excretion, folic acid

20
Q

What would an AT blood film show?

A

Microcytic

21
Q

What other tests would you do in AT?

A

Serum iron - elevated, haemoglobin electrophoresis

Haematology (18 decks)

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