Haematological Presentations

Question 1

Outline the aetiology and pathophysiology of iron def anaemia?

Answer 1

1y old requires 8mg/d

• Dietary def (poverty, lack of education, coeliac disease)
• Recurrent IDA = meckels diverticulum, oesophagitis

Question 2

How does iron def anaemia present in children?

Answer 2

• Decreased psychomotor development
• Poor cognition
• Pale or sallow (yellow) skin
• Pale cheeks and lips
• Lining of the eyelids and the nail beds may look less pink than normal
• Irritability
• Mild weakness
• Tiring easily, napping more frequently
• Pica (eat non-food materials)

Question 3

How should suspected iron def be Ix?

Answer 3

Hx = travel, diet, ethnic origin

MCV = <70fL

MCH

Ferritin

WCC

ESR/CRP = ? chronic

Blood film

Reticulocyte count

Question 4

Outline the correct Mx for iron def anaemia in children

Answer 4

Diet advice

Ferrous fumarate syrup

Poor compliance = iron spangles which ca be poured to yogurt/ice cream

Aim for Hb rise of >10g/L/m

Question 5

What are the possible complications of iron def anaemia in children?

Answer 5

Depression

Heart problems

Increased risk of infections

Motor or cognitive development delays

Question 6

Discuss the pathophysiology of sickle cell

Answer 6

Single BP mutation: Glu for Val = hydrophobic AA residues on surface = try and hide = joins to another Hb = tetramer, masks valine = clustering – LONG POLYMER.

Sickled cells = more prone to lyse

Haemolytic anaemia + vaso-occlusion = acute/chronic pain, tissue ischaemia and infarction

Question 7

What are the S+S of sickle cell in children?

Answer 7

Anaemia = pale and tired

Jaundice = skin, sclera

Sickle crisis = sudden pain can happen anywhere, but most often occurs in the chest, arms, and legs

Acute chest syndrome = chest pain, fever, pain, violent cough

Splenic sequestration (pooling) = enlarged spleen, LUQ pain

Question 8

What is a DDx for suspected sickle cell?

Answer 8

Valvular heart disease
Septic arthritis
Sepsis
Upper respiratory tract infection
Aortic arch syndrome
Familial exudative vitreoretinopathy
Lupus erythematosus
Macroglobulinemia
Polycythemia vera

Question 9

Outline the pathophysiology of thalassaemia

Answer 9

Imbalance between number of α and β globin chains

β –> decreased/absent, chromosome 11 each has 1 gene, 1 lost = minor, 2 lost = major.

α –> decreased/absent, chromosome 16 each has 2 genes, 1 lost = silent carrier, 2 lost = mild, 3 lost = HbH disease clinically severe, 4 lost = hydrops fetalis usually fatal (fluid in 2 foetal compartments)

Question 10

How does thalassemia present in children?

Answer 10

Minor =

• asymptomatic
• mild anaemia

Major =

• pale skin – particularly in the palms of the hands, fingernails, and lining of the eyelids
• fatigue (lack of energy)
• SOB
• pounding of the heart and a rapid heart rate
• failure to thrive

Question 11

What is a DDx for suspected thalassemia in children?

Answer 11

Acute Anaemia
Chronic Anaemia
Gaucher Disease
Haemolytic Anaemia
Hydrops Fetalis Imaging
Iron Deficiency Anaemia
Osteopetrosis 
Thalassemia Intermedia

Question 12

Outline paediatric haemolytic anaemia

Answer 12

Inherited (or intrinsic) HA: enzyme def, membrane defect, haemoglobinopathies

Acquired (or extrinsic) HA: autoimmune, hypersplenism, cancer, infection, drugs/toxins, microangiopathies, mechanical damages, wilsons disease

Ix = Hb, peripheral smear, bilirubin, LDH, haptoglobin, plasma free Hb, reticulocytes, direct antiglobulin test

S+S = pale skin, jaundice, dark urine, fever, weakness, dizziness, confusion, fatigue, palpitations, intolerance to physical activity, hepatosplenomegaly

Question 13

Outline paediatric haemophilia

Answer 13

Haemophilia A = def clotting factor VIII, 9/10 people with haemophilia have type A disease

Haemophilia B = def factor IX, also called Christmas disease or factor IX def

X-linked recessive pattern

S+S = bruising, easy bleeding, haemarthrosis, muscle pain, RICP

Mx

• A = IV recombinant FVIII concentrate
• B = IV recombinant FIX concentrate