FRCPath Haem Part 1 EMQs-Gen Haem 57 and 58

Theme: Haemoglobinopathies

Options (use once, more than once, or not at all):

A. Sickle cell trait (HbAS)

B. Sickle cell disease (HbSS)

C. HbSC disease

D. β-thalassaemia trait

E. β-thalassaemia major

F. δβ-thalassaemia

G. Hereditary persistence of fetal haemoglobin (HPFH)

H. HbE traitI. HbE disease

J. HbD Punjab trait

K. HbC trait

L. HbH disease (α-thalassaemia)

M. Recent transfusion effect

N. Iron deficiency affecting HbA₂ interpretation

Questions

Q1

A 25-year-old man of West African origin is referred for pre-employment screening. He is asymptomatic with normal haemoglobin and mild microcytosis is absent. Family history is unremarkable.

HPLC shows:

• HbA 58%

• HbS 40%

• HbA₂ 2.5%

• HbF <1%

What is the most likely diagnosis?

Q2

A 3-year-old child presents with recurrent painful crises and dactylitis. Examination reveals mild splenomegaly.

HPLC shows:

• HbS 85%

• HbF 12%

• HbA₂ 3%

• HbA absent

What is the most likely diagnosis?

Q3

A 30-year-old woman undergoing antenatal screening is found to have a mild haemolytic picture. She is clinically well.

HPLC shows:

• HbA 52%

• HbC 43%

• HbA₂ 3%

• HbF <2%

What is the most likely diagnosis?

Q4

A 22-year-old woman is investigated for microcytic anaemia detected on routine blood testing. She has no significant symptoms.

FBC: low MCV, normal ferritinHPLC shows:

• HbA 91%

• HbA₂ 5.6%

• HbF 1.2%

What is the most likely diagnosis?

Q5

A 1-year-old child of Mediterranean origin presents with failure to thrive, pallor, and hepatosplenomegaly. There is no history of transfusion.

HPLC shows:

• HbF 92%

• HbA absent

• HbA₂ 2%

What is the most likely diagnosis?

Q6

A 40-year-old asymptomatic man is incidentally found to have persistently elevated HbF during routine testing. His full blood count is normal, and there is a family history of similar findings without anaemia.

HPLC shows:

• HbA 70%

• HbF 28%

• HbA₂ normal

What is the most likely diagnosis?

Q7

A 28-year-old woman is referred for investigation of microcytosis. She reports fatigue.

FBC: low MCVFerritin: 6 µg/L (low)

HPLC shows:

• HbA 96%

• HbA₂ 2.9%

• HbF 1%

What is the most likely explanation for these findings?

Q8

A 35-year-old man of Southeast Asian origin is screened as part of a family study. He is asymptomatic.

HPLC shows:

• HbA 57%

• HbE 38%

• HbA₂ mildly elevated

What is the most likely diagnosis?

Q9

A 19-year-old patient presents with mild anaemia and occasional vaso-occlusive pain.

HPLC shows:

• HbS 45%

• HbC 45%

• HbF 8%

• HbA absent

What is the most likely diagnosis?

Q10

A 27-year-old man with known sickle cell disease presents for routine follow-up. He received a blood transfusion 3 weeks ago.

HPLC shows:

• HbA 35%

• HbS 40%

• HbF 20%

• HbA₂ 3%

What is the most likely explanation for this pattern?