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Haemoglobinopathies

Description

Talking about Thalassaemias and Sickle Cell Disease
Matthew Coulson
Quiz by Matthew Coulson, updated more than 1 year ago
Matthew Coulson
Created by Matthew Coulson over 5 years ago
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Resource summary

Question 1

Question
Major forms of Hb: HbA = 2 Alpha chains & 2 [blank_start]Beta[blank_end] chains HbA2 = 2 Alpha chains & 2 [blank_start]Delta[blank_end] chains HbF = 2 Alpha chains & 2 [blank_start]Gamma[blank_end] chains
Answer
  • Beta
  • Delta
  • Gamma
  • Delta
  • Beta
  • Gamma
  • Theta
  • Gamma
  • Delta
  • Beta
  • Theta
  • Theta

Question 2

Question
The most abundant Hb in the normal human body is [blank_start]HbA[blank_end]
Answer
  • HbA
  • HbA2
  • HbF

Question 3

Question
Alpha genes lie on chromosome 16. There are [blank_start]4[blank_end] alpha genes per cell ([blank_start]2[blank_end] on each chromosome) Beta genes lie on chromosome 11. There are [blank_start]2[blank_end] beta genes per cell ([blank_start]1[blank_end] on each chromosome)
Answer
  • 4
  • 2
  • 6
  • 2
  • 1
  • 3
  • 2
  • 4
  • 6
  • 1
  • 2
  • 3

Question 4

Question
Adult levels of HbA are typically achieved by [blank_start]12 months[blank_end] of age
Answer
  • 12 months
  • 3 months
  • 18 months
  • 2 years

Question 5

Question
Haemoglobinopathies are hereditary conditions which affect the synthesis of [blank_start]globin[blank_end] chains, thus affecting haemoglobin production.
Answer
  • globin

Question 6

Question
Haemoglobinopathies whereby there is a decreased rate of globin chain synthesis are called [blank_start]thalassaemias[blank_end]
Answer
  • thalassaemias

Question 7

Question
Reduced rate of production of alpha globin chains is known as [blank_start]alpha thalassaemia[blank_end] Reduced rate of production of beta globin chains is known as [blank_start]beta thalassaemia[blank_end]
Answer
  • alpha thalassaemia
  • beta thalassaemia

Question 8

Question
Thalassaemias lead to [blank_start]microcytic[blank_end] anaemia
Answer
  • microcytic
  • macrocytic

Question 9

Question
[blank_start]Alpha Thalassaemia Trait[blank_end] = 1 or 2 alpha genes missing (i.e -α/αα OR -α/-α) [blank_start]Haemoglobin H Disease (HbH)[blank_end] = 3 alpha genes missing (i.e. (--/-α) [blank_start]Barts Hydrops Fetalis[blank_end] = All 4 alpha genes missing (i.e. (--/--)
Answer
  • Barts Hydrops Fetalis
  • Haemoglobin H Disease (HbH)
  • Alpha Thalassaemia Trait

Question 10

Question
Alpha Thalassaemia Trait is the most severe form of the condition and patients rarely survive past infancy.
Answer
  • True
  • False

Question 11

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

Question 12

Question
The skin of HbH Disease patient may be slightly discoloured as this condition is known to cause a mild [blank_start]jaundice[blank_end]
Answer
  • jaundice

Question 13

Question
Extramedullary haematopoiesis in HbH Disease causes the pathological enlargement of which organ? The [blank_start]Spleen[blank_end]
Answer
  • Spleen

Question 14

Question
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.
Answer
  • True
  • False

Question 15

Question
[blank_start]Alpha[blank_end] Thalassaemia is considered to be more dangerous that [blank_start]Beta[blank_end] Thalassaemia as the former affects HbA, HbA2 & HbF whereas the latter only affects HbA
Answer
  • Beta
  • Alpha
  • Alpha
  • Beta

Question 16

Question
β+/β or β0/β = Beta Thalassaemia [blank_start]Trait[blank_end] β+/β+ or β0/β+ = Beta Thalassaemia [blank_start]Intermedia[blank_end] β0/β0 = Beta Thalassaemia [blank_start]Major[blank_end]
Answer
  • Trait
  • Intermedia
  • Major

Question 17

Question
Beta Thalassaemia Trait = [blank_start]Asymptomatic[blank_end] Beta Thalassaemia Intermedia = [blank_start]Occasional Transfusions Required[blank_end] Beta Thalassaemia Major = [blank_start]Lifelong Transfusions Required[blank_end]
Answer
  • Asymptomatic
  • Occasional Transfusions Required
  • Lifelong Transfusions Required

Question 18

Question
Beta thalassaemia major present around 6-24 months of age as the individual's [blank_start]HbF[blank_end] falls
Answer
  • HbF
  • HbA
  • HbA2

Question 19

Question
Children with beta thalassaemia major will typically present with which two key clinical signs?
Answer
  • Pallor
  • Failure to thrive
  • Reduced consciousness
  • Reduced appetite
  • Loss of accommodation reflex

Question 20

Question
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.
Answer
  • True
  • False

Question 21

Question
Regular transfusion of patients with beta thalassaemia major aims to keep the Hb level at around [blank_start]95-105[blank_end]g/L
Answer
  • 95-105
  • 105-15
  • 115-125

Question 22

Question
The main cause of mortality in beta thalassaemia major patients who are well treated is [blank_start]iron[blank_end] overload from the regular blood transfusions
Answer
  • iron

Question 23

Question
Beta thalassaemia major patient with iron overload are typically treated via venesection
Answer
  • True
  • False

Question 24

Question
Sickle cell disease is caused by a [blank_start]point[blank_end] mutation in codon 6 of the [blank_start]beta[blank_end] globin gene that substitutes glutamine to value producing Beta Globin S
Answer
  • beta
  • point

Question 25

Question
When you have one normal (B) and one abnormal (BS) gene this is known as sickle [blank_start]trait[blank_end]. This is asymptomatic and makes you a carrier of sickle cell disease (not affected by the condition).
Answer
  • trait

Question 26

Question
Sickle cell anaemia follows which kind of inheritance pattern? Autosomal [blank_start]Recessive[blank_end].
Answer
  • Recessive

Question 27

Question
Sickle Cell Anaemia causes [blank_start]Hyposplenism[blank_end] due to repeated splenic infarcts
Answer
  • Hyposplenism
  • Hypersplenism

Question 28

Question
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 [blank_start]sickle crisis[blank_end]
Answer
  • sickle crisis

Question 29

Question
Sickle cells can become stuck in arteries leading to sickle vaso-occlusion. This can cause a patient extreme [blank_start]pain[blank_end]
Answer
  • pain
  • dizziness
  • itchiness
  • nausea

Question 30

Question
Which of the following are common causes of sickle crises in HbSS patients?
Answer
  • Hypoxia
  • Dehydration
  • Infection
  • Stress
  • Cold Exposure

Question 31

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

Question 32

Question
Long term management of Sickle Cell Disease includes: - [blank_start]Folic Acid[blank_end] supplementation to increase RBC turnover - Hydroxycarbamide to induce produce of [blank_start]HbF[blank_end]
Answer
  • HbF
  • HbA
  • HbA2
  • Folic Acid (Vitamin B9)
  • Vitamin B12
  • Vitamin A

Question 33

Question
Due to the risk of occlusion, sickle cell anaemia patients are at a significantly higher risk of experiencing a stroke.
Answer
  • True
  • False

Question 34

Question
Raised HbA2 is diagnostic of which type of Thalassaemia? [blank_start]Beta Thalassaemia Trait[blank_end]
Answer
  • Beta Thalassaemia Trait
  • Alpha Thalassaemia Trait
  • HbH Disease
  • Barts Hydrops Fetalis

Question 35

Question
HPLC blood testing is normal in [blank_start]alpha[blank_end] thalassaemia trait and thus DNA testing is necessary to confirm the condition.
Answer
  • alpha
  • beta
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