Sickle Cell Anaemia and Thalassaemia Past... · Dr. Perla Eleftheriou . What we will cover An...
Transcript of Sickle Cell Anaemia and Thalassaemia Past... · Dr. Perla Eleftheriou . What we will cover An...
Sickle Cell Anaemia
and Thalassaemia Dr. Oliver Cohen
Dr. Perla Eleftheriou
What we will cover
An outline of both sickle cell anaemia
and thalassaemia
Including
Background
Symptoms
Complications
Treatment
1 hour talk followed by time for questions thereafter with Dr. Eleftheriou and Dr. Cohen.
Haemoglobin
What is anaemia? Reduction in the red cell mass or haemoglobin to a
level which is insufficient to meet the body’s physiological needs
In health, haemoglobin level
depends on:
Age
Sex
Altitude
Pregnancy status
Anaemia isn’t a diagnosis – find the cause!
Haemoglobinopathy
Disorders of haemoglobin
2 types:
Disordered rate of haemoglobin synthesis
Disordered structure of haemoglobin
7% of world’s population carries
some form of haemoglobin
disorder
Causes of anaemia
1. Defective production of red cells by
the marrow
1. Increased red cell destruction
2. Loss of red cells from the circulation
Sickle Cell Disease
Disorder of haemoglobin
Due to single amino acid change
Changes red cell structure
These cells deform easily
forming sickle cells
Sickle cells are stiff and don’t pass easily
through small blood vessels leading to
blockages.
Sickle Cell disease
Sickle Cell Disease
Commonest inherited
blood disorder that
affects mankind
Affects people of African,
Arabic, Indian, Oriental
ancestry.
Vaso-occlusive crises Simple crisis: Sudden severe pain + tenderness all over the
body or localized.
Dactylitis: painful infarcts of the small bones ( toes/ fingers )
Chest syndrome: major cause of death! Fever, chest pain, SOB, \
hypoxia
Sickle CVA: multiple small vessel occlusions, occ.of major vessels.
Priapism: Painful, abnormal and persistent erection, unaccompanied
by sexual desire or excitation.
Chest Syndrome
Sickle ‘stroke’
Sickle crises continued..
Aplastic crisis
Sequestration crisis
Haemolytic crisis
Other complications:
Eyes
Growth retardation
Kidney
Spleen
Heart
Psycho-social
Psycho-social impact
Impact of pain and symptoms on daily lives
Monitor mood
Early input from psychology
Management
Multi-disciplinary approach
Patient education
Manage acute crises
Prevent further crises
Genetic counselling / Neonatal screening
The Multidisciplinary Team
Haematologists
Specialist haematology nurses
Specialist pain nurses
Physiotherapy / Occupational therapy
Dietician
Psychologist
Pharmacist
Management of acute crisis
Hydration
Analgesia
Monitor oxygen saturations
Do not routinely need oxygen!
Treat any infection
Crisis prevention:
Hydroxyurea
A longer pain-free period after starting treatment
Even longer period before the next painful
episode
Fewer episodes of chest crises/sickle lung
Fewer blood transfusions.
Bone marrow transplant offers only possible cure
Red cell exchange
Genetics
Counseling
Screening
Thalassaemia
Reduction (or absence) of synthesis of one or
more globin chain type
Alpha or Beta
Thalassaemia
More prevalent in the Mediterranean basin, the
Middle East, Southern and Eastern Asia, the South
Pacific and South China, with reported carrier
rates ranging 2% - 25%.
1.5% of world’s popuolation are B thalassaemia
carriers and 5% are a-thalassaemia carriers
Autosomal recessive inheritance
Symptoms
Stage of presentation depends on disease
severity
B-thalassaemia major often presents in infancy
with poor growth and failure to thrive
Symptoms of anaemia
Bone symptoms
Complications
Complications of anaemia
Complications of transfusion
Iron overload
Organ damage: heart, thyroid, parathyroid,
pituitary, pancreas, liver and bone
Complications of iron chelation
Other general
complications Infections ( Yersinia and Klebsiella) –due to iron overload/chelation
Osteoporosis ( anaemia, chelation) (Vitamin D / calcium prevents)
With treatment, the outlook is good because anaemia and complications can be
controlled by transfusions and chelation treatment
treatment of thalassaemia is usually successful, with patients living into adulthood have
careers, relationships and children
The long-term outlook depends on how well complications can be prevented, particularly the iron overload.
Management
MDT Approach
Transfusion
Monitor for organ damage associated with iron
ovelroad
Iron chelation
Blood Transfusion
All UK blood virally screened
Matched to blood type to avoid reactions and complications
WHO : 5-10 % of HIV/AIDS infections in Africa occur from unsafe blood transfusions.
25% of maternal deaths due to lack of blood for transfusion.(WHO, 2007)
15% of child mortality due to lack of adequate supply of safe blood for transfusion
In Summary
Both sickle cell and thalassaemia are examples of haemoglobinopathies
Both lead to anaemia and may require blood transfusion
Patients with sickle cell anaemia can get severe ‘crises’
Iron overload is a potentially dangerous complication
MDT management is critical.
Psycho-social impact key to consider
Thank you for listening