Presentations
- Anaemia / Haemolysis
- Bone complications
- Growth and development issues
- Sickle cell
Conditions
- Complications of thalassaemia:
- Sickle cell disease (SCD), including:
- acute vaso-occlusive crisis, including:
- acute chest syndrome
- priapism
- splenic sequestration
- stroke
- chronic complications
- infection
- Thalassaemia:
- all forms of alpha thalassaemia and alpha globin variants
- beta thalassaemia
- non-transfusion dependent thalassaemia (NTDT)
- other beta globin variants
- transfusion dependent thalassaemia (TDT)
For each presentation and condition, Advanced Trainees will know how
to:
Synthesise
- recognise the clinical presentation
- identify relevant epidemiology, prevalence, pathophysiology, and clinical science
- take a comprehensive clinical history
- conduct an appropriate examination
- establish a differential diagnosis
- plan and arrange appropriate investigations
- consider the impact of illness and disease on patients and their quality of life when
developing a management plan
Manage
- provide evidence-based management
- prescribe therapies tailored to patients’ needs and conditions
- recognise potential complications of disease and its management, and initiate
preventative strategies
- involve multidisciplinary teams
Consider other factors
- identify individual and social factors and the impact of these on diagnosis and
management
Conditions
- Rare haemoglobin variants, including:
- high oxygen affinity variants
- methaemoglobin variants
- unstable haemoglobin
For each presentation and condition, Advanced Trainees will know how to:
Synthesise
- recognise the clinical presentation
- identify relevant epidemiology, prevalence, pathophysiology, and clinical science
- take a comprehensive clinical history
- conduct an appropriate examination
- establish a differential diagnosis
- plan and arrange appropriate investigations
- consider the impact of illness and disease on patients and their quality of life when
developing a management plan
Manage
- provide evidence-based management
- prescribe therapies tailored to patients’ needs and conditions
- recognise potential complications of disease and its management, and initiate
preventative strategies
- involve multidisciplinary teams
Consider other factors
- identify individual and social factors and the impact of these on diagnosis and
management
- Complication changes with time
- Normal physiological changes to haemaglobin (Hb) types with age, and how this relates to the
diagnosis of Hb disorders at different ages
- Pathophysiology of NTDT and TDT:
- iron overload in NTDT patients, and role of monitoring
- iron overload physiology, and investigations to assess iron overload
- pathophysiology of NTDT
- role of chronic anaemia and haemolysis on vascular metabolism
- Pathophysiology of SCD
- Role of haemolysis in acute and chronic presentations
- Role of Hb in oxygen / carbon dioxide (CO2) delivery to tissue, and factors that impact on this
function
- Role of vaso-occlusion and vascular remodelling
- Electrophoresis:
- High performance liquid chromatography (HPLC)
- Molecular testing for haemoglobin disorders
- Role of blood film
- Role of full blood count (FBC) and red cell parameters in diagnosis of Hb disorders
- Sickle testing
- Testing for alpha thalassaemia
- Unstable Hb testing
Management of SCD
- Adequacy of prophylaxis in patients with SCD
- Approaches to minimise sickling, including hydroxyurea treatment
- Different cultural beliefs surrounding SCD
- Emerging therapies in haemoglobinopathies, including gene therapy
- Management of hyposplenia
- Management of sickle crisis
- Prenatal diagnosis of haemoglobinopathies
- Role of bone marrow transplant in haemoglobinopathy
- Social impacts of disease, and potential marginalisation in certain cultures
- Surveillance requirements
- Transfusion regimens including red cell apheresis
Management of TDT
- Management of patients with TDT, including:
- chelation therapy and monitoring of adherence
- diagnosis and management of iron overload complications
- management of splenectomised patients
- psychological aspects of chronic illness
- transfusion management, and non-iron-related complications of chronic transfusion
