Matthew Coulson
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Talking about Thalassaemias and Sickle Cell Disease

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Matthew Coulson
Created by Matthew Coulson over 5 years ago
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Haemoglobinopathies

Haemoglobinopathies

Question 1 of 35

1

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Major forms of Hb:
HbA = 2 Alpha chains & 2 ( Beta, Delta, Gamma, Theta ) chains
HbA2 = 2 Alpha chains & 2 ( Delta, Beta, Gamma, Theta ) chains
HbF = 2 Alpha chains & 2 ( Gamma, Delta, Beta, Theta ) chains

Explanation

Question 2 of 35

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The most abundant Hb in the normal human body is ( HbA, HbA2, HbF )

Explanation

Question 3 of 35

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Alpha genes lie on chromosome 16. There are ( 4, 2, 6 ) alpha genes per cell (( 2, 1, 3 ) on each chromosome)
Beta genes lie on chromosome 11. There are ( 2, 4, 6 ) beta genes per cell (( 1, 2, 3 ) on each chromosome)

Explanation

Question 4 of 35

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Adult levels of HbA are typically achieved by ( 12 months, 3 months, 18 months, 2 years ) of age

Explanation

Question 5 of 35

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Haemoglobinopathies are hereditary conditions which affect the synthesis of chains, thus affecting haemoglobin production.

Explanation

Question 6 of 35

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Haemoglobinopathies whereby there is a decreased rate of globin chain synthesis are called

Explanation

Question 7 of 35

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Reduced rate of production of alpha globin chains is known as
Reduced rate of production of beta globin chains is known as

Explanation

Question 8 of 35

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Thalassaemias lead to ( microcytic, macrocytic ) anaemia

Explanation

Question 9 of 35

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= 1 or 2 alpha genes missing (i.e -α/αα OR -α/-α)
= 3 alpha genes missing (i.e. (--/-α)
= All 4 alpha genes missing (i.e. (--/--)

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    Barts Hydrops Fetalis
    Haemoglobin H Disease (HbH)
    Alpha Thalassaemia Trait

Explanation

Question 10 of 35

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Alpha Thalassaemia Trait is the most severe form of the condition and patients rarely survive past infancy.

Select one of the following:

  • True
  • False

Explanation

Question 11 of 35

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HbH disease causes strange 3 beta 1 alpha tetramers to form which can't carry oxygen, thus causing severe anaemia.

Select one of the following:

  • True
  • False

Explanation

Question 12 of 35

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The skin of HbH Disease patient may be slightly discoloured as this condition is known to cause a mild

Explanation

Question 13 of 35

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Extramedullary haematopoiesis in HbH Disease causes the pathological enlargement of which organ?
The

Explanation

Question 14 of 35

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Hb Barts Hydrops Fetalis is a condition whereby HbA cannot be produced due to the inability to synthesize alpha chains. This condition is typically incompatible with life.

Select one of the following:

  • True
  • False

Explanation

Question 15 of 35

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( Alpha, Beta ) Thalassaemia is considered to be more dangerous that ( Beta, Alpha ) Thalassaemia as the former affects HbA, HbA2 & HbF whereas the latter only affects HbA

Explanation

Question 16 of 35

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β+/β or β0/β = Beta Thalassaemia
β+/β+ or β0/β+ = Beta Thalassaemia
β0/β0 = Beta Thalassaemia

Explanation

Question 17 of 35

1

Beta Thalassaemia Trait =
Beta Thalassaemia Intermedia =
Beta Thalassaemia Major =

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    Asymptomatic
    Occasional Transfusions Required
    Lifelong Transfusions Required

Explanation

Question 18 of 35

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Beta thalassaemia major present around 6-24 months of age as the individual's ( HbF, HbA, HbA2 ) falls

Explanation

Question 19 of 35

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Children with beta thalassaemia major will typically present with which two key clinical signs?

Select one or more of the following:

  • Pallor

  • Failure to thrive

  • Reduced consciousness

  • Reduced appetite

  • Loss of accommodation reflex

Explanation

Question 20 of 35

1

Beta thalassaemia major can be separated from Alpha thalassaemia by looking at the child's blood - there will be an abundance of HbF in young beta thalassaemia patients.

Select one of the following:

  • True
  • False

Explanation

Question 21 of 35

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Regular transfusion of patients with beta thalassaemia major aims to keep the Hb level at around ( 95-105, 105-15, 115-125 )g/L

Explanation

Question 22 of 35

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The main cause of mortality in beta thalassaemia major patients who are well treated is overload from the regular blood transfusions

Explanation

Question 23 of 35

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Beta thalassaemia major patient with iron overload are typically treated via venesection

Select one of the following:

  • True
  • False

Explanation

Question 24 of 35

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Sickle cell disease is caused by a mutation in codon 6 of the globin gene that substitutes glutamine to value producing Beta Globin S

Explanation

Question 25 of 35

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When you have one normal (B) and one abnormal (BS) gene this is known as sickle . This is asymptomatic and makes you a carrier of sickle cell disease (not affected by the condition).

Explanation

Question 26 of 35

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Sickle cell anaemia follows which kind of inheritance pattern?
Autosomal .

Explanation

Question 27 of 35

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Sickle Cell Anaemia causes ( Hyposplenism, Hypersplenism ) due to repeated splenic infarcts

Explanation

Question 28 of 35

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A patient with known HbSS is out with friends hiking. He progressively develops chest pain, shortness of breath, headache and skin pallor. He is likely experiencing a

Explanation

Question 29 of 35

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Sickle cells can become stuck in arteries leading to sickle vaso-occlusion. This can cause a patient extreme ( pain, dizziness, itchiness, nausea )

Explanation

Question 30 of 35

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Which of the following are common causes of sickle crises in HbSS patients?

Select one or more of the following:

  • Hypoxia

  • Dehydration

  • Infection

  • Stress

  • Cold Exposure

Explanation

Question 31 of 35

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A Sickle Crisis should be managed by providing analgesia (if pain present, which it likely will be), hydration, oxygen and rest.

Select one of the following:

  • True
  • False

Explanation

Question 32 of 35

1

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Long term management of Sickle Cell Disease includes:
- ( Folic Acid (Vitamin B9), Vitamin B12, Vitamin A ) supplementation to increase RBC turnover
- Hydroxycarbamide to induce produce of ( HbF, HbA, HbA2 )

Explanation

Question 33 of 35

1

Due to the risk of occlusion, sickle cell anaemia patients are at a significantly higher risk of experiencing a stroke.

Select one of the following:

  • True
  • False

Explanation

Question 34 of 35

1

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Raised HbA2 is diagnostic of which type of Thalassaemia?
( Beta Thalassaemia Trait, Alpha Thalassaemia Trait, HbH Disease, Barts Hydrops Fetalis )

Explanation

Question 35 of 35

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HPLC blood testing is normal in ( alpha, beta ) thalassaemia trait and thus DNA testing is necessary to confirm the condition.

Explanation

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