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