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Hugh's Intersystems > Haemoglobinopathies > Flashcards

Haemoglobinopathies Flashcards

1
Q

How is Fe overload treated in Beta-thalassaemia?

A

Iron chelation therapy

  • Traditionally sub-cutaneous, pump 6 or 7 nights a week
  • Now orally, once daily
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2
Q

What are anisocytotic RBCs?

A

Cells that are irregular in size

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2
Q

Can heterozygous carriers exhibit changes in blood parameters in beta-thalassaemia?

A

Yes

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3
Q

Are the majority of alpha-thalassaemias caused by large deletions or point mutations?

A

Large deletions

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3
Q

Why do alpha-thalassaemias present in utero where beta-thalassaemias don’t?

A

But beta globin chains aren’t a part of foetal Hb while alpha chains are

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4
Q

What are some sequelae of Fe accumulation in beta-thalassaemia?

A

Diabetes

Heart failure

Liver cirrhosis

Hypo/hyperthyroidism

Endocrine complications eg infertility

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4
Q

What is the problem with giving blood transfusion in beta-thalassaemia?

A

It exascerbates the Fe overload

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4
Q

How will someone with alpha – / alpha – present clinically?

A

Alpha-thalassaemia trait - mild anaemia

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5
Q

What triggers acute exacerbations of sickle cell anaemia?

A

Repeated cycles of deoxygenation

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6
Q

Explain the pathogenesis of sickle cell disease

A

Point mutation in Glu causes change to Val leading to HbS that aggregates in RBCs making them sticky and likely to cause vaso-occlusion of small vessels

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8
Q

What is the LCR?

A

A complex promoter like region on the globin genes

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9
Q

What is the only cure from beta-thalassaemia?

A

Bone marrow transplant

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9
Q

What type of anaemia do you get with sickle cell disease?

A

Severe normocytic or macrocytic haemolytic anaemia

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10
Q

Which globin chain is deficient in alpha-thalassaemia?

A

Alpha-globin chain

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11
Q

Where is early Hb produced?

A

Yolk sack

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12
Q

How does fetal Hb differ from adult Hb?

A

Two gamma chains instead of two betas

13
Q

What is the globin chain configuration of adult haemoglobin (HbA)?

A

2 alpha globin chains

2 beta globin chains

14
Q

Are the majority of beta-thalassaemias due to large deletions or point mutations?

A

Point mutations

15
Q

Where do most of the aberrant RBCs get killed in beta-thalassaemia?

A

The bone marrow

17
Q

Can carriers of sickle cell disease be identified with examination of normal blood parameters?

A

No, as they can be normal

19
Q

What is the consequence of long term anaemia in beta-thalassaemia?

A

Erythropoiesis increases

> bone marrow expansion and loss of cortical bone = hair-on-end appearance of skull, frontal bossing, thinning of long bones

> hepatosplenomegaly due to extramedullarly erythropoiesis

20
Q

What is hydrops fetalis?

A

Complete lack of any alpha chain genes - fatal before or around birth

22
Q

What type of anaemia is seen in beta-thalassaemia?

A

Microcytic, hypochromic anaemia

24
Q

Apart from anaemia, what is the other major consequence of beta-thalassaemia?

A

Accumulation of Fe

25
Q

How frequently must blood transfusions be given in the treatment of beta-thalassaemia?

A

Every 3-4 weeks

26
Q

What happens at a protein level in patients with beta-thalassaemia?

A

Homotetramers of alpha chains accumulate and precipitate in RBCs causing damage and RBCs are destroyed

27
Q

What is chain configuration of HbA2?

A

2 alpha and 2 delta

28
Q

What are Poikilocytotic RBCs?

A

Abnormally shaped RBCs

29
Q

How can RNAi be used to treat thalassaemias?

A

Target alpha-globin mRNA in beta-thalassaemia to reduce the imbalance between the two chains

30
Q

Why must splenectomies sometimes be performed in the treatment of beta-thalassaemia?

A

High rates of RBC killing and extramedullary erythropoiesis causes splenomegaly which can lead to rupture

Hugh's Intersystems (15 decks)

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