Sickle Cell and Thalassaemia Sickle cell and thalassaemia

Sickle Cell and Thalassaemia Sickle cell and thalassaemia: a brief introduction This presentation was developed by the NHS Sickle Cell & Thalassaemia Programme in collaboration with: Beverley Smalling Verna Davis Shirley Samuel Patients representatives and The Sickle Cell Society Part of Public Health England PHE gateway number: 2014540

Introduction: What are sickle cell and thalassaemia? § § Serious conditions Affect your red blood cells Inherited from your parents You cannot ‘catch’ them Sickle cell and thalassaemia: a brief introduction PHE gateway number: 2014540

Introduction: What does having sickle cell or thalassaemia mean? § § Sickle cell and thalassaemia disorders affect haemoglobin – the part of the blood that carries oxygen around the body Oxygen is carried less efficiently around the body in people with sickle cell and thalassaemia Sickle cell and thalassaemia: a brief introduction PHE gateway number: 2014540

Introduction: What’s the difference between sickle cell and thalassaemia? § Sickle cell affects quality of haemoglobin § Red blood cells can take on sickle shape when they give up oxygen in small blood vessels § They become stiff and can’t circulate properly § They can also become stuck in small blood vessels and cause blockages § Thalassaemia affects the quantity of haemoglobin “normal” red blood cell sickled red blood cell § There are not enough red blood cells to get oxygen around the body thalassaemia red blood cell Sickle cell and thalassaemia: a brief introduction PHE gateway number: 2014540

Understanding the background: Genetics Sickle cell and thalassaemia are genetic diseases § Genes are the code which pass information to us from our parents § They are what makes us look more like our mother or father § Determining whether we are tall or short, black or white Sickle cell and thalassaemia: a brief introduction PHE gateway number: 2014540

Understanding the background: How sickle cell and thalassaemia are inherited Carriers have the disorder gene. They usually have no symptoms and may not even know they carry the gene If only one parent were a carrier: The child cannot inherit the disorder. But they could still be a carrier If one parent has a disorder and the other is a carrier the child is more likely to inherit the disorder Sickle cell and thalassaemia: a brief introduction PHE gateway number: 2014540

Understanding the background: How genes control haemoglobin A+A= = From one parent Sickle cell and thalassaemia: a brief introduction PHE gateway number: 2014540 Healthy red blood cells Healthy person

Understanding the background: How genes control haemoglobin A+S= = From one parent Sickle cell and thalassaemia: a brief introduction PHE gateway number: 2014540 Healthy red blood cells (may be a few sickled cells) Sickle cell carrier This person is healthy, but can pass the unusual gene on to their children

Understanding the background: How genes control haemoglobin S+S= = From one parent Sickle red blood cells This person will have the disease for their whole life Sickle cell and thalassaemia: a brief introduction PHE gateway number: 2014540 Person has sickle cell disease

Understanding the background: Genes control your haemoglobin Thalassaemia is inherited in exactly the same way Sickle cell and thalassaemia: a brief introduction PHE gateway number: 2014540

The big picture: Where and why we see these diseases As genetic disorders, sickle cell and thalassaemia can affect anyone, but they are more common among specific black and minority ethnic groups It’s not about race! Sickle cell and thalassaemia: a brief introduction PHE gateway number: 2014540

The big picture: Where are sickle cell and related diseases most prevalent? Sickle cell and thalassaemia: a brief introduction PHE gateway number: 2014540

The big picture: Who is most at risk? Type of carrier Ethnic Group Population Frequency Sickle Cell Carrier (Hb AS) West Africans African-Caribbean Asians 1: 5 1 : 8 to 1: 100 ßeta Thalassaemia Carrier (ß) Mediterranean Asians 1: 7 to 1: 20 1: 10 to 1: 30 Hb AD Indians 1: 50 to 1: 100 (related ‘haemoglobin variant’) (Also seen in Pakistani population) Hb. AE Bangladeshi (related ‘haemoglobin variant’) (Also seen in Indian and Pakistani populations) Sickle cell and thalassaemia: a brief introduction PHE gateway number: 2014540 1: 25 to 1: 30 Statistics source: Adapted from the SMAC Report 1993

The big picture: What does this mean in England? § § Around 450, 000 people carry an unusual gene for sickle cell or thalassaemia Around 13, 000 have sickle cell disease Around 700 have beta thalassaemia major Worldwide, sickle cell and thalassaemia are the most common ‘single gene’ disorders Sickle cell and thalassaemia: a brief introduction PHE gateway number: 2014540

A deeper look: understanding the diseases Sickle cell and thalassaemia: a brief introduction PHE gateway number: 2014540

A deeper look: Sickle Cell § § Sickle cell affects quality of haemoglobin Red blood cells can take on sickle shape when they give up oxygen in small blood vessels Cells become stiff and can’t circulate properly Cells can then become stuck in small blood vessels and cause problems including chronic pain Normal red blood cells move freely in the circulation for 120 days Sickle cell and thalassaemia: a brief introduction PHE gateway number: 2014540 Sickled red blood cells can get stuck and usually only circulate for 20 – 30 days

A deeper look: Sickle cell – the common problems § § § § More susceptible to infections including meningitis and those affecting the chest, bones or blood Anaemia – body has difficulty in handling iron Pain (could be all over the body) Strokes Damage to joints especially hips and shoulders Possible early death (if untreated) The excess of broken down red blood cells can also result in jaundice May need treatment for other complications such as diabetes or infertility Sickle cell and thalassaemia: a brief introduction PHE gateway number: 2014540 eyes chest kidneys brain heart bones

A deeper look: Treatments for Sickle Cell § § Penicillin (to prevent infections) Folic Acid (to help with producing red blood cells) Immunisation against infections For some, bone marrow transplants are an option Also important is: § Education of patient and carers about the condition § Good diet § Guarding against common complications Sickle cell and thalassaemia: a brief introduction PHE gateway number: 2014540

A deeper look: Beta Thalassaemia Major § § Thalassaemia affects the quantity of red blood cells Not enough oxygen gets around the body thalassaemic red blood cells Sickle cell and thalassaemia: a brief introduction PHE gateway number: 2014540 “normal” red blood cells

A deeper look: What problems do ‘Thalassaemics’ commonly experience? People with thalassaemia need a blood transfusion every 3 or 4 weeks for life Common problems § § § Sickle cell and thalassaemia: a brief introduction PHE gateway number: 2014540 Poor feeding in babies Pale Irritable Large spleen May have heart failure if not treated Untreated children will die young

A deeper look: Treatments for Thalassaemia § § § After transfusions too much iron builds up in body Need treatment every day to remove it – by injection or pills Can be cured by bone marrow transplant in some patients Also important is: § Education of patient and carers about the condition § Good diet § Guarding against common complications Sickle cell and thalassaemia: a brief introduction PHE gateway number: 2014540

Facing the challenge: Living with sickle or thalassaemia Sickle cell and thalassaemia: a brief introduction PHE gateway number: 2014540

Facing the challenge: Living with sickle cell or thalassaemia § § § Sickle cell and thalassaemia: a brief introduction PHE gateway number: 2014540 Finding the right care and support Dealing with school life Finding the right housing Facing stigma and lack of understanding Getting employer to understand support Frustration of being ‘wrapped in cotton wool’ when you are well

Informed choice: the importance of screening These days, screening requires only a simple blood test which can be carried out at any time Sickle cell and thalassaemia: a brief introduction PHE gateway number: 2014540

Informed choice: Why is screening important? In newborns: § It identifies those with the disease early to ensure they receive the correct treatment During pregnancy: § Identifies whether parents are carriers and the risk of their child having the disease § If screened early, parents have time to prepare and make a fully informed choice At other times: § Screening allows men and women to know their status and therefore calculate the risks Sickle cell and thalassaemia: a brief introduction PHE gateway number: 2014540

Informed choice: Early is essential § § § For most people screening happens after conception It is crucial that mums and dads get tested as early as possible 8 -10 weeks • • • Will robably put your mind at rest Will provide time for all stages of screening – getting father and even unborn child tested if requested Gives time to consider options and receive counselling Sickle cell and thalassaemia: a brief introduction PHE gateway number: 2014540

Informed choice: Challenging stigma If one person is a carrier it is likely that others in the family will be too § Carriers need to decide about telling immediate and wider family and informing them about screening § In some communities, this may raise complex ethical, cultural and religious issues eg arranged marriages, cousin marriages, termination of pregnancy Sickle cell and thalassaemia: a brief introduction PHE gateway number: 2014540

Facing the challenge: Common myths and taboos MYTH: Screening is for women FACT: It is just as important for men to be screened MYTH: People with conditions will die young FACT: Treatments are improving quickly – people can live a long life if they receive the right treatment MYTH: You can catch the conditions FACT: You only get them by inheriting them from your parents Sickle cell and thalassaemia: a brief introduction PHE gateway number: 2014540 MYTH: Sickle Cell and thalassaemia are ‘black issues’ FACT: Because they are genetic, these diseases can occur in any population MYTH: I’m well so I can’t be a carrier FACT: You can’t tell unless you have a blood test