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Z Year3 Haem Conditions > Haemaglobinopathies > Flashcards

Haemaglobinopathies Flashcards

1
Q

What are haemoglobinopathies?

A

group of recessively inherited genetic conditions affected haemoglobin

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2
Q

What is the epidemiology of haemaglobinopathies?

A
  • Not gender linked

- More prevalent in parts of world

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3
Q

What are 2 examples of haemaglobinopathies?

A
  1. sickle cell disease

2. thalassaemia

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4
Q

What are different types of thalassaemia?

A
  1. alpha thalassaemia (AT)
  2. Haemoglobin H disease
  3. Beta thalassaemia major (BT)
  4. Beta thalassaemia intermedia
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5
Q

What happens in thalassaemia?

A

Globin chain mutations causing quantitative defects

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6
Q

What are the possible alpha defects in AT and what do they lead to?

A
  1. Alpha + (mild anaemia)
  2. Alpha degree (mild anaemia)
  3. Hb H (significant anaemia )
  4. Hb Barts (death in utero no alpha genes)
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7
Q

What are the possible beta defects in BT and what are the effects?

A
  1. Beta minor (mild anaemia but v low MCV)
  2. Beta intermedia
  3. Beta major (severe anaemia presents first few months of life)
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8
Q

What does thalassaemia minor lead to?

A

resistance to falciparum malaria

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9
Q

What type of thalassaemia is rarer?

A

alpha

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10
Q

What are risk factors for AT?

A
  1. Found in malarial regions of world

2. FHx of AT

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11
Q

What are symptoms and signs of AT?

A

clinically well and asymptomatic

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12
Q

What are symptoms and signs of Hb H?

A

clinically well but risk of acute haemolytic epispdes, aplastic crisis etc

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13
Q

What anaemia symptoms may present with AT?

A
  1. fatigue
  2. Dizziness
  3. SOB
    - Splenomegaly
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14
Q

What are symptoms and signs of BT?

A
  • asymptomatic
  • FHx
  • ancestory
  • If major can have hepatosplenomegaly, anaemia , growth retardation (show up in first 3-6 months of life) and jaundice
  • Can lead to hemochromatosis
  • Chipmunk face
  • Hair on end on skull x ray
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15
Q

What are differential diagnosis for AT?

A
  1. Iron deficiency anaemia
  2. Beta-thalassamia
  3. Variant haemoglobins
  4. Anaemia of chronic disease
  5. Lead poisoning
    SA
  6. B12 deficiency anaemia
  7. Folate deficiency
  8. Other haemolytic anaemia
  9. Haematological malignancies
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16
Q

What investigations are done for AT?

A
  1. Hb
  2. MCV
  3. MCH
  4. RBC count
  5. Peripheral smear
  6. Reticulocyte percentage
  7. Serum iron
  8. Serum ferritin
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17
Q

What is Hb like in AT?

A

normal to low

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18
Q

What is MCV like in AT?

A

low

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19
Q

What is MCH like in AT?

A

low

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20
Q

What is rbc count like in AT?

A

increased

21
Q

What would peripheral smear show in AT?

A

abnormal shape and size of cells, microcytic and hypochromic + target cells

22
Q

What is reticulocyte percentage like in AT?

A

increased

23
Q

What investigations do you do for BT?

A
  1. FBC
  2. Peripheral smear
  3. Reticulocyte count
  4. Haemoglobin analysis
  5. LFTs
  6. Plain X ray of skull
  7. Abdominal US
  8. Plain X ray of long bones
24
Q

What is FBC like in BT?

A

microcytic anaemia

25
Q

What is peripheral smear like in BT?

A

microcytic red cells, tear drops

26
Q

What is reticulocyte count like in BT?

A

elevated

27
Q

What are LFTs like in BT?

A

elevated total and unconjugated bilirubin and high LDH

28
Q

How do you treat a crisis?

A

rbc transfusion

29
Q

What is management of AT silent carrier or trait?

A
  • avoidance of unnecessary iron supplementation

- if severe can have iron chelating e.g. deferoxamine

30
Q

What is management of Hb H?

A

folic acid supplement

31
Q

What is management of BT?

A
  1. Promote fitness, healthy diet, folate supplements
  2. Lifelong transfusions to keep Hb >90g/L
  3. Iron monitoring
32
Q

What is life expectancy for BT trait?

A

normal

33
Q

What chromosome is affected in AT?

A

16

34
Q

What chromsome is affect in BT?

A

11

35
Q

How do you confirm BT diagnsois?

A

Confirmed with Hb electrophoresis (low HbA and high HbF and HbA2)

36
Q

How can you tell AT on Hb electrophoresis?

A

see HbH ahead of HbA with AT

37
Q

What are the key investigations of thalassaemia?

A
  1. Microcytic anaemia + Film
  2. Normal Iron studies
  3. Gel Electrophoresis
38
Q

What is the management of thalassaemia?

A

Regular red cell transfusions every 2-4 weeks with iron chelation regime

39
Q

What makes up HbA1?

A

2 alpha and 2 beta

40
Q

What makes up HbA2?

A

2alpha and 2delta

41
Q

What makes up HbF?

A

2 alpha and 2 gamma

42
Q

Where is thalassaemia common?

A

cyrpus (screening programme)

43
Q

What gene is affected in alpha thalassaemia?

A

Chr 16

44
Q

What gene is affected in alpha thalassaemia?

A

Chr11

45
Q

Which thalassaemia is lethal?

A

Hb Barts

46
Q

Which thalassaemia require life long transfusion?

A
  1. Hb H

2. Beta major

47
Q

When do you have alpha chains?

A

before birth

48
Q

When does beta chain synthesis increase?

A

have some when born but beta from early infancy

49
Q

What is gamma synthesis like?

A

most gamma at birth and decreases

Z Year3 Haem Conditions (18 decks)

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