Specialist Haematology Copy —
Training activity: 19

Details

Select, perform and interpret diagnostic techniques for the investigation of antenatal Haemoglobinopathy and thalassaemia testing in line with the national screening programme

Type

Developmental training activity (DTA)

Evidence requirements

Evidence the activity has been undertaken by the trainee​.

Reflection on the activity at one or more time points after the event including learning from the activity and/or areas of the trainees practice for development.

An action plan to implement learning and/or to address skills or knowledge gaps identified.

Considerations

• The sample type required and the preanalytical variables affecting results
• Local population, family origin questionnaire, and downstream investigations
• National guidelines
• Local SOPs
• Quality assurance
• Communication of results
• Fail safes
• Genetic testing and the consent process
• Ethics of testing
• Role of biological father in testing

Reflective practice guidance

The guidance below is provided to support reflection at different time points, providing you with questions to aid you to reflect for this training activity. They are provided for guidance and should not be considered as a mandatory checklist. Trainees should not be expected to provide answers to each of the guidance questions listed.

Before action

• What background knowledge of different haemoglobinopathies and thalassaemias, their inheritance patterns, and the national screening programme guidelines is needed?
• What insights do you hope to gain regarding the specific laboratory techniques used in antenatal screening and diagnostic testing, and how to interpret the results in the context of the national programme?
• What is your current understanding of techniques like haemoglobin electrophoresis, high-performance liquid chromatography (HPLC), and molecular testing in this setting?
• How will you prepare for this activity (e.g., reviewing the national screening programme guidelines, understanding the laboratory workflow)?
• What potential difficulties might you face in selecting appropriate tests or interpreting results, especially in complex cases or carrier combinations, and how will you plan to address these?
• How do you feel about performing and interpreting tests with significant implications for prospective parents?

In action

• Following the national screening programme guidelines, which specific tests are you performing at each stage of the antenatal investigation? Why is this specific sequence important?
• As you analyse the results from techniques like high-performance liquid chromatography (HPLC) or capillary electrophoresis, are you identifying any abnormal patterns or variants? How are you immediately confirming these findings?
• Are you encountering any difficulties in interpreting complex electrophoretic patterns or differentiating between various haemoglobin variants? What resources or guidelines are you referring to in real-time?
• Are you considering the implications of the results for both the mother and the fetus and the need for clear communication with the clinical team?

On action

• What were the key steps in the antenatal haemoglobinopathy and thalassaemia screening pathway relevant to the case(s) you investigated?
  • What specific diagnostic techniques (e.g., full blood count, haemoglobin analysis by HPLC or electrophoresis, DNA analysis) were selected and (where applicable) performed?
  • What were the results obtained from these investigations? How did you interpret these results in the context of the national screening programme guidelines? Were any further actions or investigations indicated?
• What is the purpose and process of the national antenatal haemoglobinopathy and thalassaemia screening programme?
  • What are the different laboratory techniques used for screening and definitive diagnosis of these conditions?
  • How are results interpreted to identify carriers, affected individuals, and at-risk couples?
  • What are the implications of different results for genetic counselling and further management of the pregnancy?
• How will this experience enhance your understanding of antenatal haemoglobinopathy and thalassaemia testing and the national screening programme?
  • What are the key guidelines and protocols you need to be aware of in this area of testing?
  • How will you ensure that results are interpreted and reported accurately and in a timely manner, considering the sensitive nature of antenatal testing?

Beyond action

• Have you been involved in other cases of antenatal haemoglobinopathy and thalassaemia screening since this training activity? Were the findings consistent with your previous experience and the national screening programme?
• Have you reviewed your reflect-on-action notes from this training activity? Has your understanding of the screening process, confirmatory testing, and reporting of results in this context deepened?
• Can you recall instances where you discussed the implications of positive antenatal screening results with the antenatal team or the family? How did your understanding of the laboratory findings inform these discussions?
• Have you reviewed the national guidelines and protocols for antenatal haemoglobinopathy and thalassaemia screening since this training activity?
• Has this training activity enhanced your knowledge of the laboratory techniques used in antenatal haemoglobinopathy and thalassaemia screening, such as haemoglobin electrophoresis and HPLC?
• Do you now have a better appreciation for the importance of adhering to national screening programme guidelines and ensuring accurate and timely reporting of results?
• Has this experience influenced your understanding of the potential clinical implications of different haemoglobin variants and their inheritance patterns?
• Have the skills developed in this activity, such as attention to detail in sample processing and interpretation, been beneficial in other areas of your work?
• How will your experience in antenatal haemoglobinopathy and thalassaemia screening prepare you for the ongoing advancements and potential changes to national screening programmes?
• Will your ability to accurately perform and interpret these tests contribute to effective genetic counselling and informed reproductive choices for families?
• How might this experience support your development in specialised areas of haemoglobinopathy diagnostics or transfusion science?

Relevant learning outcomes

#	Outcome
# 5	Outcome Perform a range of laboratory-based techniques to investigate anaemia, red cell disorders and white cell disorders.
# 6	Outcome Identify appropriate clinical and laboratory investigations and outline the management of acquired and hereditary red cell disorders.
# 7	Outcome Perform quality assurance and control tasks across the range of investigations.