Hereditary Elliptocytosis

Overview

Hereditary elliptocytosis (say: el-ip-tow-sy-TOW-sis) is an inherited condition that changes the shape of your red blood cells. Red blood cells are normally round and slightly squashed, a shape that helps them travel smoothly through tiny blood vessels. In this condition, many of them are oval or cigar-shaped instead. Doctors call these oval cells elliptocytes, which is simply the name for their shape. The word hereditary means it runs in families. For most people, the odd-shaped cells work perfectly well and cause no trouble at all. A small number of people have red cells that break down faster than normal, which can lead to a mild form of anemia (a low level of red blood cells, which carry oxygen around the body).

It is one of the more common inherited red blood cell conditions worldwide. It appears most often in people with African, Mediterranean, Middle Eastern and Southeast Asian ancestry, but it can affect anyone of any background.

It affects males and females equally and is present from birth. Many people are diagnosed only after a relative is tested, or when a routine blood count happens to show oval-shaped cells. A more severe form can appear in babies, but it usually settles as the child grows.

Symptoms

Common symptoms

• No symptoms at all in most people
• Mild tiredness or low energy, especially during or after an infection
• A slightly yellow tinge to the whites of the eyes, which may come and go
• Occasional dark or tea-coloured urine when red cells break down faster than usual
• A spleen that feels slightly enlarged (the spleen is an organ on the left side of the tummy that filters blood)
• Gallstones found later in life, which can cause tummy pain after fatty meals

Symptoms in children

• Some newborns have jaundice (yellowing of the skin and eyes) in the first days of life and may need light treatment in hospital
• Most children grow and develop normally with no restrictions
• Occasional tiredness or looking pale during a viral illness
• A rare, more severe form can appear in the first year of life with marked paleness, jaundice and a large spleen, and it usually improves over the following months and years

Symptoms in older adults

• Usually the same mild pattern as in younger people
• Tiredness that may be wrongly put down to getting older
• Gallstones becoming more likely over time
• An enlarged spleen picked up during a routine examination
• Anemia that may be noticed more quickly because the body has less reserve

Causes

Main causes

• Changes (variants) in genes that build the proteins forming the outer 'skin' of red blood cells. This skin is a flexible mesh that keeps the cell round and lets it bend through narrow vessels.
• The main proteins involved are spectrin, protein 4.1 and glycophorin C. When one of these is in short supply or shaped differently, the cell stretches into an oval.
• In most families it is inherited in a dominant pattern, which means a child needs only one copy of the changed gene from one parent to have the condition.
• If a child inherits a changed gene from both parents, the condition can be more severe and red cells may be more fragile.

Risk factors

• Having a parent, brother or sister with hereditary elliptocytosis
• Ancestry from regions where the condition is more common, such as parts of Africa, the Mediterranean, the Middle East and Southeast Asia
• Parents who are close blood relatives, which raises the chance that a child inherits two changed gene copies
• A parent with the condition has roughly a one in two chance of passing it on with each pregnancy

When to see a doctor

See a doctor urgently if:

• You or your child look suddenly very pale, are very tired, or are short of breath
• Fever with worsening tiredness or jaundice
• Dark urine that does not settle within a day
• New or worsening pain in the upper tummy, especially on the right side after eating
• A newborn with yellow skin or eyes, or who is feeding poorly and very sleepy

Book a routine appointment if:

• A blood test has shown oval-shaped red cells and you want to understand what it means
• A close relative has been diagnosed and you would like to be tested
• You have ongoing tiredness, or mild yellowing of the eyes that comes and goes
• You are planning a pregnancy and want to talk about the chance of passing the condition on
• You are seeing a new doctor or dentist and want your records to be up to date

Diagnosis

Doctors usually start with a simple blood test called a full blood count, which measures your red cells and how much oxygen-carrying pigment (haemoglobin) they contain. Then a small sample of blood is looked at under a microscope. Seeing many oval-shaped cells, alongside a family history, is often enough to make the diagnosis. If the picture is unclear, a few extra tests can confirm it and show whether red cells are breaking down faster than normal.

Tests that may be done

• Full blood count to check the number and size of red cells and the haemoglobin level
• Blood film (a drop of blood examined under a microscope) to look at cell shapes
• Reticulocyte count, which measures how many new red cells the body is making
• Blood tests for bilirubin and a liver-related enzyme, which rise when red cells break down
• A test that measures how well a dye binds to red cells, used when the diagnosis is uncertain
• Genetic testing, sometimes used to confirm the exact gene change and to advise family members
• Testing of parents or siblings, since the condition runs in families
• An ultrasound scan if gallstones or an enlarged spleen are suspected

What to expect at your appointment

Most of the process involves blood tests you can have at a clinic or your GP surgery, and results usually come back within days to a few weeks. Nothing about the tests is painful beyond a brief needle prick. If your result is mild, your doctor may simply suggest a check-up every so often rather than regular treatment, and they may offer to test relatives who are planning a family.

Treatment

Most people with hereditary elliptocytosis need no treatment at all, because their red cells work well despite their shape. When treatment is needed, the aim is to support the red blood cells, ease anemia if it appears, and treat problems such as gallstones if they cause symptoms. Care is usually led by your GP, with input from a blood specialist (haematologist) if your case is more complicated.

Self-care at home

• Eat regular balanced meals and drink enough fluids, especially during illness or hot weather
• Get plenty of rest when you are unwell, and build back your energy slowly afterwards
• Keep up with everyday activity and exercise as your energy allows
• Tell any doctor, nurse or dentist you see that you have hereditary elliptocytosis
• Keep a simple note of your symptoms so you can describe patterns at appointments
• Attend any follow-up blood tests your doctor recommends, even if you feel well

Medical treatments

Treatment is tailored to how much the condition affects you. Many people are simply monitored with occasional blood tests. If anemia develops, your doctor may suggest a vitamin supplement that helps the body make red blood cells, or in more marked cases a blood transfusion in hospital. Babies with jaundice may be treated with light therapy. A temporary drop in red cell production, often triggered by a common viral infection, usually needs supportive care and sometimes a short hospital stay. Your medical team will explain the options for your particular situation and weigh up the benefits and risks with you.

When is surgery considered?

Surgery is only considered in unusual situations. If the spleen is removing red cells too quickly and causing troublesome anemia, doctors may discuss an operation to remove it, but this carries a lifelong higher risk of certain infections, so it is only chosen after careful discussion and with extra vaccinations and preventive advice. Surgery may also be suggested if gallstones are causing repeated pain. Most people with hereditary elliptocytosis never need an operation.

Living with this condition

For most people, hereditary elliptocytosis barely features in daily life. You can work, travel, play sport and take part in family life as normal. The main practical steps are knowing your diagnosis, mentioning it at medical appointments, and getting tiredness or yellowing eyes checked rather than ignoring them.

Lifestyle tips

• Keep a copy of your blood test results so new doctors can see the pattern over time
• Stay well hydrated and eat regular meals, particularly when you have an infection
• Avoid smoking, which is harder on your heart and lungs when you are anemic
• Ask your doctor about appropriate vaccinations, especially if your spleen is enlarged or has been removed
• Speak to your doctor before long trips to high altitude if you have anemia
• Encourage adult relatives to ask about a simple blood test if they are planning a family

Diet and exercise

There is no special diet for this condition. A varied diet with plenty of vegetables, fruit, whole grains, beans and protein helps your body make healthy blood cells, and foods rich in iron and folate support red cell production. Regular movement, such as walking, swimming or cycling, is good for your heart and energy levels. If you feel very tired or breathless, slow down, rest, and mention it to your doctor rather than pushing through.

Mental health and emotional wellbeing

Learning you have a genetic blood condition can bring worry, especially if you are thinking about having children or if a child has been diagnosed. Many people also feel relieved once a vague set of symptoms has an explanation. Feeling anxious or low is understandable and worth talking about. If low mood, worry or sleep problems last more than a couple of weeks, or if you have thoughts of harming yourself, tell your doctor straight away or contact your local crisis support service or emergency number.

Prevention

Hereditary elliptocytosis cannot be prevented, because it is written into your genes from the moment of conception. What you can do is understand your family pattern. Genetic counselling can explain the chance of passing the condition on and discuss your options before pregnancy. During pregnancy, routine blood tests will pick up anemia so it can be managed.

Screening programmes

There is no general population screening programme. Instead, doctors offer testing to relatives of someone diagnosed, since the condition runs in families, and they check newborns for jaundice in the usual way. If you have the condition, your children can be tested with a simple blood count if there is ever a reason to know.

Complications

If left untreated

• Anemia that slowly worsens and causes tiredness, breathlessness and poor concentration
• Pigment gallstones, which can cause pain after fatty meals and may need surgery
• A temporary halt in red cell production triggered by a common childhood virus, leading to sudden severe anemia that needs medical care
• An enlarged spleen, which may be felt as fullness on the left side of the tummy
• Iron build-up in the body if many blood transfusions are needed over years
• Rarely, leg ulcers or growth problems in the most severe inherited forms

Long-term outlook

The outlook is generally very good. The great majority of people with hereditary elliptocytosis have a normal lifespan and a normal quality of life, and many never need any treatment. Even the more severe form seen in some babies usually improves steadily as the child grows. With occasional check-ups and a doctor who knows your diagnosis, most people simply get on with their lives.

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