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Paediatrics > 3: Haematology - Haemaglobinopathies in Children > Flashcards

3: Haematology - Haemaglobinopathies in Children Flashcards

1
Q

What is thalassemia

A

Defect in genes encoding globing chains - causing defect globing chains

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2
Q

What is a-thalassemia

A

Defect in one or more genes encoding a-globin genes

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3
Q

In which two ethnicities is a-thalassemia more common

A

Asian

African

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4
Q

what is the inheritance pattern of a-thalassemia

A

Autosomal recessive

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5
Q

explain aetiology of a-thalassemia

A

Deletion of at least one of four-alleles which encode two a-globin chains on chromosome 16

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6
Q

what chromosome is impacted in a-thalassemia

A

Chromosome 16

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7
Q

what is a thalassemia minima

A

a-/aa

Deletion one gene

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8
Q

how will a thalassemia minima present

A

Silent carrier

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9
Q

what defect is present in a thalasemia minor

A

a-/a- or aa/–

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10
Q

what deletion in a-thalasemia minor is more common in Africans

A

Trans (a-/a-)

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11
Q

what deletion in a-thalasemia minor is more common in Asians

A

Cis (aa/–)

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12
Q

what is trans

A

Deletion on different chromosomes

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13
Q

what is cis

A

Deletion on same chromosome

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14
Q

how does a-thalassemia minor present

A

Mild haemolytic anaemia

RBC and RDW in normal range

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15
Q

what is HbH Disease

A

a-/–

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16
Q

how dies HbH disease present

A

Jaundice
Anaemia
Hepatosplenomegaly

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17
Q

what is Hb-Barts hydrops fatalis

A

Deletion all 4 alpha-alleles of a-globin chains

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18
Q

what is hydrops fatalis

A

Collection of fluid in two or more compartments

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19
Q

what does Hb-Barts hydrops fatalis cause

A

In-utero death

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20
Q

how will a-thalasemia present on FBC

A

Microcytic Hypochromic Anaemia

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21
Q

how can thalasemia be differentiated from IDA

A

Normal RDW

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22
Q

What can be seen on peripheral blood smear in thalassemia

A

Teardrop cells

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23
Q

What is confirmatory-test for thalasemia

A

Hb electrophoresis

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24
Q

How is a-thalasemia minima treated

A

No Rx

25
Q

How is a-thalasemia minor treated

A

Iron

Folate

26
Q

How is HbH treated

A

Iron, Folate
Transfusion
Allogenic stem cell transplant - curative

27
Q

What is B thalasemia

A

Defect in genes encoding B-globin chains

28
Q

How many genes encode B-globin chains

A

Two

29
Q

How many variations of B-thalasemia are there

A

Two Diseases

30
Q

What ethnicity is B-thalasemia more common in

A

Medeteranian

31
Q

What is the inheritance pattern of B-thalasemia

A

Autosomal recessive

32
Q

When will b-thalasemia symptoms manifest and why

A

6-months

Initially a foetus is born with foetal Hb (2-alpha and 2-gamma chains). This gradually decreases and adult Hb is produced (2-alpha, 2-beta)

33
Q

What is B thalassemia minor

A

B/-

34
Q

How does B thalassemia present

A

Mild anaemia

Asymptomatic

35
Q

What is B thalassemia major

A

-/-

36
Q

How does B-thalasemia major present

A
  • Severe anaemia
  • Secondary growth dysfunction
  • Extramedullary enlargement
37
Q

How will FBC present in thalasemia

A

Microcytic hypochromic anaemia

38
Q

How can anaemia in thalasemia be differentiated from IDA

A

RDW will be normal

39
Q

What is a sign of haemolysis in thalasemia

A

Low haptoglobin
High LDH
High reticulocytes

40
Q

What can be seen on blood smear in thalassemia

A

Teardrop cells

41
Q

What is confirmatory test for thalasemia

A

Hb Electrophoresis

42
Q

How is B-thalassemia major treated

A

Regular blood-transfusions every 3-4W

43
Q

What is risk of frequent blood transfusions

A

Iron overload

44
Q

What is the only definitive management of B-thalasemia

A

Allogenic bone marrow transplant

45
Q

What does ITP stand for

A

Idiopathic (Immune) thrombocytopenia purpura

46
Q

What are the three types of ITP

A
  • Acute
  • Chronic
  • Evans
47
Q

When is acute ITP seen

A

Young children following viral infection. It resolves in 1-2W

48
Q

When is chronic ITP seen

A

Middle-age adults: presents as a relapsing and remitting course

49
Q

What is Evan’s syndrome

A

ITP and autoimmune haemolytic anaemia

50
Q

What age does acute ITP occur

A

2-5 years

51
Q

What causes ITP

A

Autoantibodies to glycoprotein IIa and IIb

52
Q

What precedes ITP

A

Viral Infection

53
Q

How does ITP present clinically

A
  • Petechiae
  • Bleeding: gums, melena, haematuria
  • Easy bruising
54
Q

Explain pathophysiology of ITP

A

IgG antibodies bind to glycoprotein IIa and IIb on platelets - which causes spleen to remove platelets

55
Q

What will be seen on FBC in ITP

A

Thrombocytopenia

56
Q

What will be seen on coagulation screen in ITP

A

Increased bleeding time

57
Q

What is used to control moderate bleeding in ITP

A

Tranexamic acid

58
Q

What is used to control severe bleeding in ITP

A

Glucocorticoids and IVIg

Paediatrics (61 decks)

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