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Hee-matte-ology > Haemoglobulinopathies > Flashcards

Haemoglobulinopathies Flashcards

1
Q

What is Haemoglobin made up of?

A

2 alpha globin like chains
2 Beta globin like chains
One haem group attached to each globin chain

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2
Q

What are the three main types of haemoglobin?

A

HbA
HBA2
HbF

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3
Q

What is HbA made of?

A

a2b2

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4
Q

What is HbA2 made of?

A

a2d2

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5
Q

What is HbF made of?

A

a2y2

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6
Q

What % of Hb in adults is HbA?

A

97%

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7
Q

Where are alpha like genes found?

A

chromosome 16

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8
Q

How many alpha genes are found per chromosome/cell?

A

2 per chromosome

4 per cell

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9
Q

How many beta genes are found per chromosome/cell?

A

1 per chromosome

2 per cell

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10
Q

What chromosome are beta like genes found on?

A

Chromosome 11

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11
Q

When are adult levels of Hb reached?

A

6-12 months of age

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12
Q

What is affected in haemoglobulinopathies?

A

Globin chain synthesis

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13
Q

What do haemoglobulinopathies behave as?

A

Autosomal recessive

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14
Q

What are the two main groups of haemoglobulinopathies?

A

Thalassaemias

Structural haemoglobin variants

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15
Q

What occurs in thalassaemias?

A

Decreased rate of globin chain synthesis

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16
Q

What occurs in structural haemoglobin variants?

A

Normal production of abnormal globin chain

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17
Q

what are the 2 types of thalassaemias?

A

Alpha

Beta

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18
Q

What occurs in thalassaemia?

A

Inadequate Hb production

Microcytic hypochromic anaemia

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19
Q

What happens in severe thalassaemia?

A

Unbalanced accumulation of globin chains
Haemolysis
Innefective erythropoeisis

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20
Q

Where are thalassaemias more common?

A

Africa

Middle east

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21
Q

What chains are affected in alpha thalassaemia?

A

A globin chain

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22
Q

What alpha genes do unaffected individuals have?

A

aa/aa

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23
Q

How does alpha thalassaemia occur?

A

Deletion of one A+ or bot A0 on chromosome 16

A-/AA) or (AA/–

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24
Q

What HB are affected in Alpha thalassaemia?

A

All
HbA
HbA2
HbF

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25
Q

What is alpha thalassaemia trait?

A

One or two alpha genes missing

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26
Q

What is HbH disease?

A

Only one alpha gene (–/-a)

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27
Q

What is Hb Barts hydrops fetalis?

A

No functional alpha genes

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28
Q

What is alpha thalassaemia trait?

A

Asymptomatic carrier state
Microcytic hypochromic red cells
Mild anaeia

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29
Q

What is the treatment or apha thalassaemia trait?

A

None needed

30
Q

What are the ferritin levels in alpha thalassaemia trait?

A

Normal

31
Q

What occurs in HbH disease?

A

Anaemia with very low MCV and MCH

32
Q

What is HbH?

A

Excess B chains form B4 called HbH

33
Q

What is the complication of HbH?

A

Jaundice
Splenomegaly
May need transfusion

34
Q

What is the severest form of A thalassaemia?

A

Hb barts hydrops foetalis syndrome

35
Q

What cannot be produced in Hb barts hydrops foetalis syndrome?

A

HbF and HbA

36
Q

What happens as there is no alpha chains in Hb barts hydrops foetalis syndrome?

A 
Hb Barts tetramers (y4)
HbH tetramers (B4)
37
Q

What can avoid risk of Hb barts hydrops foetalis syndrome?

A

Antenatal screening

38
Q

What are the clinical features of Hb barts hydrops foetalis syndrome?

A 
Profound anaemia
Cardiac failure
Growth retardation
Hepatosplenomegaly
Skeletal abnormalities
Cardiovascular abnormalities
Almost all die in utero
39
Q

What are beta thalassaemias?

A

Disorders of beta chain synthesis

40
Q

What causes beta thalassaemias?

A

Usually caused by point mutations

41
Q

What are B+?

A

Reduced function

42
Q

What are B0?

A

Absent

43
Q

What Hb chains are affected in Beta thalassaemia?

A

Only HbA

44
Q

What is Beta thalassaemia trait?

A

B+/B or B0/B

45
Q

What happens in B thalassaemia trait:?

A

Asymptomatic
No/mild anaemia
Low MCV/MCH
Raised HbA2

46
Q

What is B thalassaemia intermedia?

A

B+/B+ or B0/B+

47
Q

What is the treatment for B thalassaemia intermedia?

A

Occasional transfusion

48
Q

What is B thalassaemia major?

A

B0/B0

Severe

49
Q

When does BTM present?

A

6-24months as HbF falls

50
Q

What are the symptoms of Beta Thalassaemia major?

A

Pallor

Failure to thrice

51
Q

What does extramedullary haematopoiesis cayse?

A

Hepatosplenomegaly
Skeletal changes
Organ damage
Cord compression

52
Q

What is seen in haemoglobin analysis of BTM?

A

Mainly HbF

No HbA

53
Q

What is the management of B thalassaemia major?

A

Regular transfusion programme

54
Q

What level is Haemoglobin maintained in B thalassaemia major?

A

95-105g/l

55
Q

What do transfusions do in B thalassaemia major?

A

Suppresses ineffective erythropoiesis

Inhibits over-absorption of iron

56
Q

What is the main cause of death in B thalassaemia major?

A

Iron overload

57
Q

What are the consequences of iron overload?

A 
Endocrine dysfunction
-Impaired growth and pubertal development
Diabetes
Osteoporosis
Cardiac disease
-Cardiomyopathy
-Arrhythmias
Liver disease
-Cirrhosis
-Hepatocellular cancer
58
Q

What is the treatment of iron overload?

A

Iron chelating drugs

59
Q

What causes sickiling disorders?

A

Point mutation in codon 6 of the B globin gene that produces Bs
Changes Hb to HbS
HbS polymerises and distorts the red cell and damages the membrane

60
Q

What is sickle cell trait?

A

B/Bs

61
Q

What is sickle cell anaemia?

A

Two abnormal B genes (Bs/Bs)

62
Q

What is the % of HB that is HbS in sickle cell anaemia?

A

> 80%

63
Q

WHat is sickle crisis?

A

Episodes of tissue infarction due to vascular occlusion

64
Q

What are the consequences of sickle cells anaemia?

A

Chronic haemolysis
Sequestration of sickeled Rbcs in liver and spleen
Hyposplenism
-Repeated splenic infaracts

65
Q

What can precipitate sickle crisis?

A 
Hypoxia
Dehdration
Infection
cold exposure 
Stress/fatigue
66
Q

What is the treatment of sickle crisis?

A 
Opiate analgesa
Hydration
Rest 
Oxygen
Antibiotics if infected
67
Q

What is the long term management of sickle cell anemia/

A

Hyposplenism: Reduce infection risk - prophylactic penicllin and vaccinations
Folic acid supplements
Hydroxycarbamide
Regular transfusion

68
Q

How are haemoglobinopathies diagnosed?

A 
FBC
Hb 
Red cell indicies
Blood film 
Enthic origin
HPLC (High performance liquid chromatography
69
Q

What is diagnostic of beta thalassaemia?

A

Raised HbA2

70
Q

What is seen on blood analysis of a normal patient?

A

HbA >80%
HbF <1%
HbA2 1.5-3.5%

Hee-matte-ology (17 decks)

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