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Haematology > Red blood cell abnormalities > Flashcards

Red blood cell abnormalities Flashcards

1
Q

What type of haemoglobinopathy is sickle cell disease?

A

A disorder of quality (abnormal molecule or varient haemoglobins)

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2
Q

What is the pathophysiology of sickle cell disease?

A
  • Valine is substituted for glutamic acid in the β-globin chain
  • Sickle cell haemoglobin (HbS) is insoluble and polymerises when deoxygenated
  • Cell flexibility is decreased and the sickle appearance occurs
  • Irreversibly sickled cells are dehydrated and dense and won’t return to normal when oxygenated
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3
Q

How can sickle cell disease present clinically?

A 
• Asymptomatic (except in hypoxia) for heterozygotes
• Vaso-occusive crises
• Acute chest syndrome
Pulmonary hypertentsion
• Anaemia
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4
Q

What are some long-term growth and development problems of sickle cell disease?

A
  • Young children are short but regain height by adulthood
  • Below normal weight
  • Delayed sexual maturation
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5
Q

What are some long-term bone problems of sickle cell disease?

A
  • Avascular necrosis of hips and shoulders
  • Compression of the vertebrae
  • Shortening of hand and foot bones
  • Osteomyelitis
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6
Q

What are some long-term cardiac problems of sickle cell disease?

A
  • Cardiomegaly
  • Arrhythmias
  • Iron overload cardiomyopathy
  • MI
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7
Q

What are some long-term neurological problems of sickle cell disease?

A
  • TIAs
  • Fits
  • Cerebral infarcts
  • Coma
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8
Q

Approximately what percentage of sickle cell patients have neurological problems?

A

25%

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9
Q

What are some long-term liver problems of sickle cell disease?

A
  • Chronic hepatomegaly

* Liver dysfunction

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10
Q

What are some long-term renal problems of sickle cell disease?

A

Chronic tubulointestinal nephritis

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11
Q

What are some long-term eye problems of sickle cell disease?

A
  • Retinopathy
  • Vitreous haemorrhage
  • Retinal detachments
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12
Q

What is a pregnancy-related problem in sickle cell disease?

A

Impaired placental blood flow can lead to spontaneous abortion

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13
Q

How would you diagnoses sickle cell disease?

A 
• Blood count
- Hb level in the range of 60-80g/L
- Raised reticulocyte count
• Sickled erythrocytes on blood film
• Sickle solubility test will be positive 
• Hb electrophoresis confirms diagnosis
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14
Q

How would you treat sickle cell disease?

A
  • Treat precipitating factors (e.g. infection, dehydration, etc.) quickly
  • Folic acid to all haemolysis patients
  • IV fluids
  • Analgesia
  • Oxygen and antibiotics if required
  • Blood transfusion
  • Oral hydroxycarbamide
  • Stem cell transplant
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15
Q

What type of haemoglobinopathy are thalassaemias?

A

Disorders of quantity (reduced production)

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16
Q

What are thalassaemias?

A

Genetic diseases of unbalanced Hb synthesis

17
Q

What are the 3 classifications of thalassamia severity?

A
  1. Thalassaemia major
  2. Thalassaemia intermedia
  3. Thalassaemia minor
18
Q

Are thalassaemias macrocytic or microcytic?

A

Microcytic

19
Q

What are α-thalassaemia defects normally caused by?

A

Gene deletions

20
Q

What are β-thalassaemia defects normally caused by?

A

Point mutations

21
Q

At what age does thalassaemia major usually present?

A

Between 6-12 months

22
Q

Why does thalassaemia major usually present at the age it does?

A

Between 6-12 months when there is a switch from foetal to adult Hb

23
Q

What is the usual clinical presentation of thalassaemia major?

A
  • Listlessness
  • Crying
  • Pale
  • Failure to feed
24
Q

How would you treat thalassaemia major?

A
  • Regular transfusion
  • Iron chelation
  • Endocrine supplementation
  • Fertility treatment
  • Bone health
  • Psychological support
25
Q

How does thalassaemia intermedia present?

A

Symptomatic with moderate anaemia but don’t require regular transfusions

26
Q

What is thalassaemia minor?

A

It is the heterozygote carrier of thalassaemia which is usually asymptomatic

27
Q

What are the most common membranopathies?

A

Spherocytosis (vertical interactions) and elliptocytosis (horizontal interactions)

28
Q

What are the most common enzymopathies?

A

G6PD deficiency and pyruvate kinase deficiency

29
Q

Genetically, why does G6PD deficiency affect males more than females?

A

Because it is heterogeneous X-linked

30
Q

What does G6PD stand for?

A

Glucose-6-phosphate dehydrogenase

31
Q

Why is G6PD important?

A

It is part of a reaction which protects the RBC from oxidative damage

32
Q

Give some interactions which can causes oxidative crises in G6PD deficiency

A
  • Primaquine
  • Nitrofurantoin
  • Sulphanamides
  • Quinolones
  • Dapsone
  • Broad beans
  • Infections

Haematology (5 decks)

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