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Phase 3a - Paediactrics > Haematology > Flashcards

Haematology Flashcards

1
Q

What is microcytic anaemia?

A

Microcytic anaemia is a form of anaemia characterized by smaller-than-normal red blood cells (low mean corpuscular volume, MCV), typically caused by issues in haemoglobin synthesis.

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2
Q

What are the main causes of microcytic anaemia in children?

A

Iron deficiency anaemia (most common).
Thalassaemia (alpha or beta).
Chronic disease-related anaemia.
Lead poisoning.
Sideroblastic anaemia (rare).

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3
Q

What are common symptoms of microcytic anaemia in children?

A

Fatigue and weakness.
Pallor (especially noticeable on mucous membranes).
Irritability.
Poor appetite.
Developmental delays in severe or chronic cases.

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4
Q

What are key investigations for microcytic anaemia?

A

Full blood count (FBC) with MCV and mean corpuscular haemoglobin (MCH).
Serum ferritin (iron stores).
Serum iron and total iron-binding capacity (TIBC).
Haemoglobin electrophoresis (for thalassaemia).
Blood smear.
Lead levels if poisoning is suspected.

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5
Q

How is iron deficiency anaemia treated in children?

A

Address the underlying cause (e.g., dietary insufficiency, blood loss).
Iron supplementation (oral ferrous sulfate) for 3–6 months.
Dietary advice to increase iron-rich foods (e.g., red meat, leafy greens).
Vitamin C to enhance iron absorption.

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6
Q

The most common cause of microcytic anaemia in children is __________.

A

iron deficiency anaemia

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7
Q

Microcytic anaemia is characterized by red blood cells with a low __________ volume.

A

mean corpuscular

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8
Q

Haemoglobin electrophoresis is used to diagnose __________.

A

thalassaemia

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9
Q

__________ poisoning is a rare cause of microcytic anaemia in children.

A

Lead

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10
Q

Vitamin __________ improves iron absorption when treating iron deficiency anaemia.

A

C

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11
Q

Which test is most indicative of iron deficiency anaemia?
A. Serum ferritin
B. Serum calcium
C. White blood cell count
D. Erythropoietin level

A

A. Serum ferritin

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12
Q

What dietary advice is recommended for children with iron deficiency anaemia?
A. Increase consumption of dairy products.
B. Avoid foods containing vitamin C.
C. Include iron-rich foods like red meat and spinach.
D. Follow a high-protein, low-iron diet.

A

C. Include iron-rich foods like red meat and spinach.

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13
Q

Which condition is NOT a cause of microcytic anaemia?
A. Thalassaemia
B. Vitamin B12 deficiency
C. Lead poisoning
D. Chronic disease-related anaemia

A

B. Vitamin B12 deficiency

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14
Q

T/F: Microcytic anaemia always requires blood transfusions for treatment.

A
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15
Q

T/F: Iron deficiency anaemia is the most common cause of anaemia worldwide.

A

t

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16
Q

T/F: A blood smear can help differentiate between iron deficiency anaemia and thalassaemia.

A

t

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17
Q

Scenario: A 7-year-old child presents with fatigue, pallor, and irritability. Blood tests reveal a low haemoglobin level, low MCV, low ferritin, and high TIBC.
Q: What is the most likely diagnosis, and how would you treat it?

A

Diagnosis: Iron deficiency anaemia.
Treatment: Oral iron supplementation (e.g., ferrous sulfate) for 3–6 months, along with dietary advice to increase iron-rich foods and vitamin C intake.

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18
Q

Arrange the steps in diagnosing microcytic anaemia:
A. Take a detailed history and perform a physical examination.
B. Perform a full blood count and assess MCV.
C. Check serum ferritin and iron studies.
D. Consider haemoglobin electrophoresis if thalassaemia is suspected.
E. Investigate for potential causes (e.g., dietary insufficiency, gastrointestinal bleeding).

A

A → B → C → D → E

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19
Q

What are the pros and cons of iron supplementation for microcytic anaemia?

A

Pros:

Effective in replenishing iron stores and treating anaemia.
Non-invasive and widely available.
Cons:

Gastrointestinal side effects (e.g., constipation, nausea).
Requires adherence to treatment for several months.

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20
Q

Why is it important to differentiate between iron deficiency anaemia and thalassaemia in children with microcytic anaemia?

A

The treatments differ significantly: iron supplementation is required for iron deficiency anaemia, while unnecessary iron supplementation can cause harm in thalassaemia. Identifying the correct cause prevents complications and ensures effective management.

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21
Q

Provide an example of a dietary change that can improve iron deficiency anaemia.

A

A child switches from a diet high in processed snacks to one that includes fortified cereals, lean red meat, spinach, and oranges (to increase vitamin C for better iron absorption).

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22
Q

What is thalassaemia?

A

Thalassaemia is a group of inherited blood disorders caused by reduced or absent production of one or more globin chains of haemoglobin, leading to anaemia.

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23
Q

What are the two main types of thalassaemia?

A

Alpha thalassaemia: Reduced production of alpha-globin chains.
Beta thalassaemia: Reduced production of beta-globin chains.

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24
Q

What are the clinical features of beta thalassaemia major?

A

Severe anaemia.
Failure to thrive.
Hepatosplenomegaly.
Bone deformities due to marrow hyperplasia.
Iron overload from transfusions and increased absorption.

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25
Q

How is thalassaemia diagnosed?

A

Full blood count (microcytic, hypochromic anaemia).
Blood smear (target cells, nucleated RBCs).
Haemoglobin electrophoresis (abnormal haemoglobin patterns).
Genetic testing.

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26
Q

What is the mainstay of treatment for beta thalassaemia major?

A

Regular blood transfusions to maintain haemoglobin levels.
Iron chelation therapy to prevent iron overload.
Consideration of bone marrow transplantation (curative).

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27
Q

In thalassaemia, anaemia results from impaired synthesis of the __________ chains of haemoglobin.

A

globin

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28
Q

What is haemophilia?

A

Haemophilia is an X-linked recessive bleeding disorder caused by a deficiency or dysfunction of clotting factors, leading to impaired blood clotting.

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29
Q

What are the types of haemophilia?

A

Haemophilia A: Deficiency of factor VIII.
Haemophilia B (Christmas disease): Deficiency of factor IX.

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30
Q

How is haemophilia inherited?

A

Haemophilia is inherited in an X-linked recessive pattern, primarily affecting males, with females typically being carriers.

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31
Q

What are the clinical features of haemophilia?

A

Spontaneous bleeding (e.g., into joints and muscles).
Prolonged bleeding after injury, surgery, or dental procedures.
Easy bruising.
Haemarthrosis (joint bleeding).
Intracranial haemorrhage in severe cases.

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32
Q

How is haemophilia diagnosed?

A

Prolonged activated partial thromboplastin time (aPTT).
Normal prothrombin time (PT) and platelet count.
Reduced levels of factor VIII or IX on specific assays.

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33
Q

What is the treatment for haemophilia?

A

Replacement therapy with recombinant factor VIII or IX.
Desmopressin (DDAVP) for mild haemophilia A.
Antifibrinolytics (e.g., tranexamic acid) for mucosal bleeding.
Prophylactic factor replacement to prevent spontaneous bleeding.

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34
Q

Haemophilia A is caused by a deficiency in factor __________

A

VIII

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35
Q

Haemophilia B, also known as __________ disease, is caused by a deficiency in factor IX.

A

Christmas

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36
Q

The inheritance pattern of haemophilia is __________-linked recessive.

A

X

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37
Q

A common presentation of haemophilia is bleeding into __________, known as haemarthrosis.

A

joints

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38
Q

Mild haemophilia A can be treated with __________, which stimulates the release of stored factor VIII.

A

desmopressin

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39
Q

Which of the following is NOT a clinical feature of haemophilia?
A. Prolonged bleeding
B. Spontaneous haemarthrosis
C. Petechial rash
D. Intracranial haemorrhage

A

C. Petechial rash

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40
Q

What is the mainstay of treatment for severe haemophilia?
A. Platelet transfusions
B. Recombinant factor replacement therapy
C. Vitamin K supplementation
D. Fresh frozen plasma

A

B. Recombinant factor replacement therapy

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41
Q

Which laboratory finding is characteristic of haemophilia?
A. Prolonged PT
B. Low platelet count
C. Prolonged aPTT
D. High fibrinogen levels

A

C. Prolonged aPTT

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42
Q

T/F: Haemophilia predominantly affects females.

A

False (It predominantly affects males.)

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43
Q

T/F: Desmopressin is effective for treating haemophilia B.

A

False (It is only effective in mild haemophilia A.)

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44
Q

T/F: Patients with haemophilia typically have a normal platelet count.

A

True.

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45
Q

T/F: Intracranial haemorrhage is a life-threatening complication of haemophilia.

A

True.

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46
Q

Scenario: A 5-year-old boy presents with recurrent joint swelling and bruising after minor injuries. His mother reports a family history of a bleeding disorder affecting males.
Q: What is the likely diagnosis, and how would you confirm it?

A

Likely diagnosis: Haemophilia.
Confirmation: Perform coagulation studies showing prolonged aPTT and normal PT, followed by specific factor assays to identify factor VIII or IX deficiency.

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47
Q

Arrange the steps in managing a severe bleeding episode in haemophilia:
A. Administer recombinant factor VIII or IX.
B. Apply local pressure to the bleeding site.
C. Assess for complications like haemarthrosis or intracranial haemorrhage.
D. Consider imaging if intracranial haemorrhage is suspected.

A

B → A → C → D

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48
Q

Haemophilia A →

A

Factor VIII deficiency.

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49
Q

Haemophilia B →

A

Factor IX deficiency.

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50
Q

Severe haemophilia →

A

Spontaneous bleeding episodes.

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51
Q

Mild haemophilia →

A

Bleeding only after significant trauma or surgery.

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52
Q

What are the pros and cons of prophylactic factor replacement therapy in haemophilia?

A

Pros:

Reduces the frequency of bleeding episodes.
Prevents joint damage.
Improves quality of life.
Cons:

Requires regular intravenous infusions.
High cost.
Risk of inhibitor development (antibodies against clotting factors).

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53
Q

Why is it important to differentiate between haemophilia and von Willebrand disease in a bleeding patient?

A

Differentiation is crucial as the treatments differ: desmopressin and von Willebrand factor concentrates are used in von Willebrand disease, while factor replacement therapy is used in haemophilia.

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54
Q

Give an example of a potential complication in a haemophilia patient receiving factor replacement therapy.

A

Development of inhibitors (antibodies) against the clotting factor, reducing the effectiveness of treatment and requiring alternative therapies like bypassing agents.

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55
Q

What is von Willebrand’s disease?

A

Von Willebrand’s disease (VWD) is the most common inherited bleeding disorder, caused by a deficiency or dysfunction of von Willebrand factor (vWF), which affects platelet adhesion and stabilizes factor VIII

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56
Q

How is von Willebrand’s disease inherited?

A

VWD is typically inherited in an autosomal dominant manner, although rare severe forms may be autosomal recessive.

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57
Q

What are the types of von Willebrand’s disease?

A

Type 1: Partial quantitative deficiency of vWF (most common).
Type 2: Qualitative defect in vWF.
Subtypes: 2A, 2B, 2M, 2N.
Type 3: Severe deficiency or absence of vWF (rare and most severe).

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58
Q

What are the clinical features of von Willebrand’s disease?

A

Easy bruising.
Epistaxis (nosebleeds).
Menorrhagia (in females).
Prolonged bleeding after surgery, trauma, or dental extractions.
Gastrointestinal bleeding (in severe cases).

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59
Q

How is von Willebrand’s disease diagnosed?

A

Bleeding history and family history.
Laboratory tests:
Prolonged bleeding time.
Normal or slightly prolonged aPTT.
Normal PT.
Reduced vWF antigen and vWF activity (ristocetin cofactor activity).
Factor VIII levels may be low.

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60
Q

What is the treatment for von Willebrand’s disease?

A

Desmopressin (DDAVP): Stimulates release of vWF and factor VIII from endothelial cells (used in Type 1).
vWF-containing factor concentrates: For severe cases or when desmopressin is ineffective.
Antifibrinolytics (e.g., tranexamic acid): For mucosal bleeding.
Hormonal therapy (e.g., oral contraceptives): For menorrhagia.

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61
Q

The most common type of von Willebrand’s disease is Type __________.

A

1

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62
Q

Von Willebrand’s disease affects platelet __________ and stabilizes factor VIII.

A

adhesion

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63
Q

The inheritance pattern of von Willebrand’s disease is typically __________ dominant.

A

autosomal

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64
Q

__________ stimulates the release of vWF and factor VIII from endothelial cells.

A

Desmopressin (DDAVP)

65
Q

Type __________ VWD is characterized by a complete absence of vWF.

A

3

66
Q

Which of the following laboratory findings is typical in von Willebrand’s disease?
A. Prolonged PT
B. Prolonged aPTT
C. Normal or prolonged bleeding time
D. Low platelet count

A

C. Normal or prolonged bleeding time

67
Q

Which of the following treatments is first-line for Type 1 VWD?
A. Platelet transfusion
B. Desmopressin (DDAVP)
C. Vitamin K supplementation
D. Fresh frozen plasma

A

B. Desmopressin (DDAVP)

68
Q

Which subtype of Type 2 VWD involves increased platelet binding and thrombocytopenia?
A. 2A
B. 2B
C. 2M
D. 2N

A

B. 2B

69
Q

T/F: Von Willebrand’s disease is more common in males than females.

A

False (It affects both sexes equally due to its autosomal inheritance.)

70
Q

T/F: Desmopressin is effective for all types of von Willebrand’s disease.

A

False (It is most effective for Type 1 and some cases of Type 2.)

71
Q

T/F: Type 3 von Willebrand’s disease is associated with severe bleeding and requires replacement therapy.

A

True.

72
Q

T/F: Factor VIII levels are always normal in von Willebrand’s disease.

A

False (They may be low due to the role of vWF in stabilizing factor VIII.)

73
Q

Scenario: A 12-year-old girl presents with frequent nosebleeds, easy bruising, and heavy menstrual bleeding. Family history reveals similar symptoms in her mother.
Q: What is the likely diagnosis, and how would you confirm it?

A

Likely diagnosis: Von Willebrand’s disease.
Confirmation: Perform bleeding time, vWF antigen/activity assays, and factor VIII levels to confirm the diagnosis.

74
Q

Arrange the steps in the treatment of a patient with Type 1 von Willebrand’s disease undergoing minor surgery:
A. Administer tranexamic acid.
B. Administer desmopressin before the procedure.
C. Monitor for bleeding post-surgery.
D. Consider vWF-containing factor concentrates if desmopressin is ineffective.

A

B → A → C → D

75
Q

Von Willebrand’s disease Type 1 –>

A

Partial quantitative deficiency of vWF.

76
Q

Von Willebrand’s disease Type 2A –>

A

Defective multimer assembly of vWF.

77
Q

Von Willebrand’s disease Type 2B –>

A

Increased platelet binding and thrombocytopenia.

78
Q

Von Willebrand’s disease Type 3 –>

A

Complete absence of vWF.

79
Q

What are the pros and cons of desmopressin in von Willebrand’s disease?

A

Pros:

Effective for Type 1 and some Type 2 cases.
Avoids the need for blood products.
Can be administered intranasally or intravenously.
Cons:

Not effective for Type 3 or some Type 2 subtypes.
Side effects: headache, hyponatraemia, flushing.

80
Q

Why is it important to distinguish von Willebrand’s disease from haemophilia?

A

Both disorders involve prolonged bleeding, but VWD affects platelet function and factor VIII, while haemophilia primarily involves clotting factor deficiencies.
Treatment differs significantly: vWF-related therapies for VWD versus factor replacement for haemophilia.

81
Q

What is immune thrombocytopenia (ITP)?

A

Immune thrombocytopenia (ITP) is an acquired autoimmune disorder characterized by immune-mediated destruction of platelets and a low platelet count, leading to an increased risk of bleeding.

82
Q

What are the two main forms of ITP?

A

Acute ITP: Often follows a viral infection and is more common in children.
Chronic ITP: Lasts more than 12 months and is more common in adults.

83
Q

What is the pathophysiology of ITP?

A

Antibodies, typically IgG, target platelet surface antigens, marking them for destruction.
Platelets are destroyed primarily in the spleen.
Decreased platelet production in the bone marrow may also occur.

84
Q

What are the clinical features of ITP?

A

Petechiae and purpura.
Easy bruising.
Mucosal bleeding (e.g., epistaxis, gingival bleeding).
Rarely, severe bleeding (e.g., gastrointestinal or intracranial hemorrhage).

85
Q

How is ITP diagnosed?

A

Clinical diagnosis based on isolated thrombocytopenia (platelet count <100 × 10⁹/L).
Exclude other causes of thrombocytopenia (e.g., malignancy, infections, or medications).
Peripheral blood smear shows normal or increased numbers of large platelets.

86
Q

What is the treatment approach for ITP in children?

A

Observation in mild cases without significant bleeding.
First-line treatments:
Corticosteroids (e.g., prednisolone).
Intravenous immunoglobulin (IVIG).
Anti-D immunoglobulin (in Rh-positive patients).
Second-line treatments:
Rituximab.
Splenectomy (rarely used in children).

87
Q

ITP is caused by __________ destruction of platelets by the immune system.

A

autoimmune

88
Q

The most common clinical features of ITP include __________ and __________.

A

petechiae; purpura

89
Q

First-line treatments for ITP include corticosteroids, __________, and anti-D immunoglobulin.

A

intravenous immunoglobulin (IVIG)

90
Q

Chronic ITP is defined as thrombocytopenia lasting more than __________ months.

A

12

91
Q

In ITP, platelets are primarily destroyed in the __________.

A

spleen

92
Q

What is the typical platelet count in ITP?
A. >150 × 10⁹/L
B. 50–100 × 10⁹/L
C. <100 × 10⁹/L
D. <20 × 10⁹/L

A

C. <100 × 10⁹/L

93
Q

Which of the following is a first-line treatment for ITP in children?
A. Rituximab
B. Splenectomy
C. Prednisolone
D. Platelet transfusion

A

C. Prednisolone

94
Q

What is the primary cause of platelet destruction in ITP?
A. Viral infection.
B. Immune-mediated targeting of platelet antigens.
C. Bone marrow suppression.
D. Genetic mutations.

A

B. Immune-mediated targeting of platelet antigens.

95
Q

T/F: ITP is more common in adults than children.

A

False (Acute ITP is more common in children.)

96
Q

T/F: Platelet transfusion is the mainstay of treatment in ITP.

A

False (Platelet transfusion is not routinely used due to rapid destruction of transfused platelets.)

97
Q

T/F: Chronic ITP is more common in females than males

A

True.

98
Q

T/F: Splenectomy is rarely performed in children with ITP.

A

True.

99
Q

Scenario: A 5-year-old boy presents with a 2-day history of petechial rash and mild bruising. He recently recovered from a viral upper respiratory infection. Platelet count is 60 × 10⁹/L, and the rest of the blood count is normal.
Q: What is the most likely diagnosis, and how should this case be managed?

A

Diagnosis: Acute immune thrombocytopenia (ITP).
Management: Observation, as the child is asymptomatic with mild thrombocytopenia.

100
Q

Arrange the following steps in the management of moderate-to-severe ITP in children:
A. Start corticosteroids.
B. Monitor platelet counts regularly.
C. Consider IVIG if rapid platelet increase is required.
D. Reserve splenectomy for refractory cases.

A

A → C → B → D

101
Q

Indication of Corticosteroids in ITP

A

First-line treatment for moderate-to-severe ITP.

102
Q

Indication of IVIG in ITP

A

Rapid platelet count increase for significant bleeding.

103
Q

Indication of Splenectomy in ITP

A

Refractory ITP not responding to other treatments.

104
Q

Indication of Observation in ITP

A

Mild ITP without significant bleeding.

105
Q

What are the pros and cons of corticosteroid treatment in ITP?

A

Pros:

Rapidly increases platelet count.
Effective in most cases.
Cons:

Side effects: weight gain, hyperglycemia, mood changes.
Relapse may occur after discontinuation.

106
Q

Why is it important to rule out other causes of thrombocytopenia before diagnosing ITP?

A

Other conditions (e.g., leukemia, aplastic anemia, infections) may present similarly but require different management.
Misdiagnosis could delay appropriate treatment and worsen outcomes.

107
Q

What is haemolytic disease of the newborn (HDN)?

A

HDN is a condition where maternal antibodies attack fetal red blood cells, leading to hemolysis, anemia, and potentially severe complications in the newborn.

108
Q

What is the primary cause of HDN?

A

The primary cause is blood group incompatibility, most commonly Rh(D) incompatibility, where an Rh-negative mother carries an Rh-positive fetus.

109
Q

What other blood group incompatibilities can cause HDN?

A

ABO incompatibility.
Rarely, incompatibility with other minor antigens like Kell, Duffy, or Kidd antigens.

110
Q

What are the clinical features of HDN?

A

Jaundice within the first 24 hours of life.
Pallor due to anemia.
Hepatosplenomegaly.
Hydrops fetalis in severe cases.
Kernicterus (neurological damage from hyperbilirubinemia).

111
Q

How is HDN diagnosed?

A

Maternal blood tests: Blood group and antibody screen.
Fetal/cord blood tests: Hemoglobin, bilirubin, blood group, and Coombs test (direct antiglobulin test).
Ultrasound: Detects hydrops fetalis or anemia in the fetus.

112
Q

What is the management of mild HDN in a newborn?

A

Phototherapy to reduce bilirubin levels.

113
Q

What treatments are used for severe HDN?

A

Exchange transfusion to remove antibodies and excess bilirubin.
Intravenous immunoglobulin (IVIG) to reduce hemolysis.
Intrauterine transfusion in severe fetal anemia.

114
Q

The most common cause of haemolytic disease of the newborn is __________ incompatibility.

A

Rh(D)

115
Q

__________ is used to detect maternal antibodies against fetal red blood cells.

A

Antibody screen

116
Q

The __________ test confirms the presence of maternal antibodies on fetal red blood cells.

A

Coombs (direct antiglobulin)

117
Q

Severe HDN can cause __________, a life-threatening condition characterized by fluid accumulation in fetal compartments.

A

hydrops fetalis

118
Q

Phototherapy helps reduce __________ levels in newborns with HDN.

A

bilirubin

119
Q

What is the most common antibody associated with Rh(D)-mediated HDN?
A. IgA
B. IgG
C. IgM
D. IgE

A

B. IgG

120
Q

Which of the following is a definitive treatment for severe fetal anemia in HDN?
A. Phototherapy
B. Exchange transfusion
C. Intrauterine transfusion
D. IVIG

A

C. Intrauterine transfusion

121
Q

What is the primary goal of using anti-D immunoglobulin in Rh-negative mothers?
A. To treat fetal anemia.
B. To prevent the development of Rh antibodies.
C. To treat hydrops fetalis.
D. To reduce bilirubin levels.

A

B. To prevent the development of Rh antibodies.

122
Q

T/F: ABO incompatibility is a less common cause of HDN than Rh(D) incompatibility.

A

True.

123
Q

T/F: The Coombs test is positive in HDN due to maternal antibody-coated fetal red blood cells.

A

True.

124
Q

T/F: Anti-D immunoglobulin is administered to all mothers, regardless of Rh status, to prevent HDN.

A

False (It is given to Rh-negative mothers.)

125
Q

Scenario: A 28-year-old Rh-negative mother delivers an Rh-positive baby. The baby develops jaundice and pallor within 24 hours. The Coombs test is positive, and the bilirubin level is rising.
Q: What is the diagnosis, and how should this case be managed?

A

Diagnosis: Haemolytic disease of the newborn (HDN).
Management:
Start phototherapy to reduce bilirubin levels.
Monitor hemoglobin and bilirubin levels.
Consider exchange transfusion if bilirubin levels are critically high.

126
Q

Arrange the following steps in managing a newborn with severe HDN:
A. Perform an exchange transfusion.
B. Administer phototherapy.
C. Monitor bilirubin and hemoglobin levels.
D. Consider IVIG to reduce hemolysis.

A

B → C → D → A

127
Q

Phototherapy →

A

Reduces bilirubin levels by converting it to water-soluble isomers.

128
Q

Exchange transfusion →

A

Removes maternal antibodies and bilirubin from circulation.

129
Q

Anti-D immunoglobulin →

A

Prevents sensitization in Rh-negative mothers.

130
Q

IVIG →

A

Reduces hemolysis by blocking maternal antibodies.

131
Q

What are the pros and cons of exchange transfusion in HDN?

A

Pros:

Rapidly reduces bilirubin and maternal antibodies.
Treats severe anemia.
Cons:

Invasive procedure.
Risk of complications such as infection, thrombosis, or electrolyte imbalance.

132
Q

Why is Rh(D) incompatibility more likely to cause severe HDN compared to ABO incompatibility?

A

Rh(D) antibodies are IgG and can cross the placenta, leading to significant hemolysis.
ABO antibodies are usually IgM, which do not cross the placenta, or IgG that causes milder hemolysis due to widespread ABO antigen expression.

133
Q

What is sickle cell anaemia?

A

Sickle cell anaemia is an autosomal recessive genetic condition caused by a mutation in the HBB gene, leading to the production of abnormal hemoglobin (HbS), which causes red blood cells to become sickle-shaped, fragile, and prone to hemolysis.

134
Q

What is the inheritance pattern of sickle cell anaemia?

A

Autosomal recessive.

135
Q

What is the primary genetic mutation in sickle cell anaemia ?

A

A point mutation in the HBB gene on chromosome 11, resulting in the substitution of valine for glutamic acid in the beta-globin chain of hemoglobin.

136
Q

What are the key clinical features of sickle cell anaemia?

A

Chronic hemolytic anemia.
Painful vaso-occlusive crises.
Dactylitis in infants.
Increased risk of infections.
Acute chest syndrome.
Splenomegaly or autosplenectomy.
Stroke, priapism, and delayed growth.

137
Q

How is sickle cell anaemia diagnosed?

A

Newborn screening.
Hemoglobin electrophoresis (detects HbS).
Complete blood count (anemia, raised reticulocytes).
Blood film (sickle-shaped red blood cells).

138
Q

What is the cornerstone of management for sickle cell anaemia?

A

Preventing complications, managing acute crises, and regular health maintenance with measures like hydroxyurea, prophylactic antibiotics, and vaccinations.

139
Q

Sickle cell anaemia is caused by a mutation in the __________ gene on chromosome 11.

A

HBB

140
Q

The abnormal hemoglobin in sickle cell disease is referred to as __________.

A

HbS

141
Q

__________ is the most common life-threatening complication of sickle cell anaemia and presents with chest pain, fever, and hypoxia.

A

Acute chest syndrome

142
Q

__________ is a common presentation in infants with sickle cell disease and involves painful swelling of the hands and feet.

A

Dactylitis

143
Q

__________ is the only curative treatment for sickle cell anaemia.

A

Hematopoietic stem cell transplant

144
Q

What is the primary function of hydroxyurea in sickle cell anaemia?
A. Increases platelet count
B. Reduces infections
C. Increases fetal hemoglobin (HbF) production
D. Prevents autosplenectomy

A

C. Increases fetal hemoglobin (HbF) production

145
Q

Which of the following infections is a patient with sickle cell anaemia particularly susceptible to?
A. Streptococcus pneumoniae
B. Escherichia coli
C. Pseudomonas aeruginosa
D. Mycoplasma pneumoniae

A

A. Streptococcus pneumoniae

146
Q

Which of the following vaccines is critical for patients with sickle cell anaemia?
A. MMR vaccine
B. Influenza vaccine
C. Pneumococcal vaccine
D. Hepatitis A vaccine

A

C. Pneumococcal vaccine

147
Q

T/F: Acute chest syndrome is a medical emergency in sickle cell anaemia.

A

True.

148
Q

T/F: Hydroxyurea decreases the frequency of vaso-occlusive crises in sickle cell anaemia.

A

True.

149
Q

T/F: Sickle cell trait usually causes severe symptoms similar to sickle cell disease.

A

False (Sickle cell trait is typically asymptomatic.)

150
Q

Scenario: A 6-year-old boy with sickle cell anaemia presents with fever, chest pain, and difficulty breathing. His oxygen saturation is 89%. A chest X-ray shows infiltrates in both lungs.
Q: What is the diagnosis, and how should it be managed?

A

Diagnosis: Acute chest syndrome.
Management:
Admit to hospital.
Administer supplemental oxygen.
Start broad-spectrum antibiotics and possibly antivirals.
Provide pain relief and hydration.
Consider blood transfusion if necessary.

151
Q

Arrange the following steps in managing a vaso-occlusive crisis in order of priority:
A. Hydration
B. Pain management
C. Oxygen supplementation if hypoxic
D. Blood transfusion if severe anemia

A

C → B → A → D

152
Q

Dactylitis →

A

Painful swelling of hands and feet, typically in infants.

153
Q

Acute chest syndrome →

A

Chest pain, fever, hypoxia, and pulmonary infiltrates.

154
Q

Autosplenectomy →

A

Functional asplenia due to repeated splenic infarctions.

155
Q

Stroke →

A

Neurological deficit caused by cerebral vessel occlusion

156
Q

What are the pros and cons of using hydroxyurea in sickle cell anaemia?

A

Pros:

Reduces frequency of vaso-occlusive crises.
Increases HbF levels, reducing hemolysis.
Decreases need for transfusions.
Cons:

Requires regular monitoring of blood counts.
May cause side effects like myelosuppression.

157
Q

Why is prophylactic penicillin started in children with sickle cell anaemia from a young age?

A

Children with sickle cell anaemia have functional asplenia due to autosplenectomy, which increases their risk of infections with encapsulated organisms like Streptococcus pneumoniae. Prophylactic penicillin reduces the risk of severe infections.

158
Q

What are some preventive strategies for sickle cell complications?

A

Early diagnosis through newborn screening.
Prophylactic antibiotics (penicillin).
Routine vaccinations, including pneumococcal and meningococcal vaccines.
Hydroxyurea to reduce crises.
Education on early signs of complications.

Phase 3a - Paediactrics (17 decks)

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