FRCPath Haem Part 1 EMQs-Gen Haematology 90 and 91

Theme: Diagnosis and investigation of haemoglobinopathies.

Options

A. β-thalassaemia trait

B. α⁰-thalassaemia trait

C. Homozygous α⁺-thalassaemia

D. δβ-thalassaemia trait

E. Hereditary persistence of fetal haemoglobin (HPFH)

F. Hb E trait

G. Hb Lepore trait

H. Hb S/β⁰-thalassaemia

I. Hb SC disease

J. Further DNA analysis required

K. Repeat testing after iron repletion

L. Test biological father immediately

M. Newborn likely to have β-thalassaemia major/TDT

N. Emergency sickle screening requires confirmatory testing

O. Hb H disease

Question 1

A 10-week pregnant woman of Pakistani origin is referred following routine antenatal screening. Her FBC shows Hb 112 g/L, MCV 66 fL, MCH 20 pg. Ferritin is normal. HPLC demonstrates HbA 94.2%, HbA₂ 5.8%, HbF 0.9%. No variant peak is identified.

What is the most likely diagnosis?

Question 2

A 12-week pregnant woman from Thailand has Hb 109 g/L, MCV 68 fL, MCH 21 pg. HbA₂ is 2.3% and HbF 0.8%. No abnormal haemoglobin is detected. Her partner is also Thai with MCH 22 pg.

What is the most appropriate next step?

Question 3

A healthy 25-year-old Greek woman undergoes preconceptual screening. Hb is 125 g/L, MCV 84 fL, MCH 28 pg. HbA₂ is 4.3% and HbF 0.7%.

What is the most likely diagnosis?

Question 4

A pregnant woman from Nigeria has Hb 116 g/L, MCV 78 fL, MCH 25 pg. HbA₂ is 2.5%. HbF is 7.2%. No abnormal haemoglobin is detected.

What is the most likely diagnosis?

Question 5

A 23-year-old woman has Hb 132 g/L, MCV 86 fL, MCH 29 pg. HbA₂ is 2.5%. HbF is 18%. Family study shows similar findings in her father and grandmother. No anaemia is present.

What is the most likely diagnosis?

Question 6

A pregnant woman of Vietnamese origin has Hb 108 g/L, MCV 67 fL, MCH 22 pg. HPLC shows a peak in the HbA₂ window measuring 16%. HbF is normal.

What is the most likely diagnosis?

Question 7

A newborn screening sample shows Hb F only with no detectable Hb A. The baby is clinically well.

What is the most likely interpretation?

Question 8

A 35-year-old man from Ghana is scheduled for emergency laparotomy. A sickle solubility test is positive. No previous records are available.

What is the most appropriate laboratory action?

Question 9

A 32-year-old woman from Cyprus has Hb 121 g/L, MCV 64 fL, MCH 21 pg, HbA₂ 2.1%, HbF 0.7%. Brilliant cresyl blue staining demonstrates numerous HbH inclusion bodies in approximately 5% of erythrocytes.

What is the most likely diagnosis?

Question 10

A 21-year-old woman is referred following newborn screening of her infant. The infant's screen suggests Hb FS. Maternal testing demonstrates HbA 0%, HbS 49%, HbC 48%, HbF 3%.

What is the mother's diagnosis?