Case History

Case number: 00009

A 8-week pregnant lady is referred to you for anaemia. She has a Hb of 7.2 and an MCV of 65.3. An iron panel is normal. You suspect thalassaemia as she has a family history of thalassaemia. Her peripheral blood film and the results of her thalassaemia screen are shown below:









Questions:

  1. What is the diagnosis?
  2. Assuming her partner has a normal genotype, what is the chance that her baby will be affected?
  3. Which condition leads to an increase in the percentage of haemoglobin A2?
  4. What other genetic abnormality, if co-inherited, may ameliorate the severity of this patient’s condition?
  5. If a person has a normal HbA2, can they still have beta thalassaemia? How so?

Discussion