Woman with no symptoms diagnosed with genetic disorder after routine checkup: Doctors removed 14 pints of blood over a year

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Julie James , a 71-year-old woman, who believed she was in sound health has revealed how a routine medical checkup helped in detecting a hereditary condition that eventually required doctors to remove more than 14 pints of blood from her body over the course of a year to prevent potentially life-threatening liver damage.

According to the Mirror, Julie James is a retired HR director hailing from London, now living in Carmarthenshire, Wales, booked a comprehensive private health assessment in March 2024 after both of her parents died suddenly from cardiac-related conditions.
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In a hope of assessing her own heart health, Julie did an electrocardiogram and was relaxed after the (ECG) came back normal.

However, the blood test results received on April 11 flagged unusually high iron levels. Her reading stood at 34.1 micromoles per litre (umol/L), well above the NHS's normal range of 10 to 25 umol/L for adult women.

Further tests carried out by her GP focused on ferritin, which measures the body's iron stores, and revealed that her levels had climbed from 554 micrograms per litre (ug/L) in April to 798 ug/L by July.

The result was significantly above the NHS's normal ferritin range of 11 to 310 ug/L for adult women. Julie subsequently was subjected to genetic testing, which took 14 weeks to confirm she had haemochromatosis. This is an inherited condition that causes iron to build up in the body over many years and can lead to liver disease, diabetes, heart problems and arthritis if left untreated.

According to the National Institute of Health , the symptoms of hemochromatosis include: feeling tired or weak, pain in the joints, loss of interest in sex or erectile dysfunction, pain in the abdomen over the liver, and darkening of skin color. Gene mutations cause the most common type of hemochromatosis.

Since receiving the diagnosis in mid-September 2024 when Julie was 69, she has undergone 18 venesections. It is a procedure in which nearly 450mL of blood is removed each time.

The treatment encourages the body to use excess iron to produce new red blood cells, gradually reducing iron levels.

Adding to her treatment, Julie had stopped consuming red meat and alcohol which helped her in bringing her iron levels back into a healthy double-figure range. She continues to undergo regular blood tests and occasional venesections to monitor the condition.

Julie said she had always considered herself fit and healthy, maintaining an active lifestyle after losing both parents to sudden cardiac conditions.

“I had no symptoms at all. I just thought it was worth getting checked.”

Julie said: “There I am, thinking I’m healthy. Then I go for a private medical assessment in March, and by the time we get (from April to July), it has gone up even higher… The earlier you know these things, the better they can be managed and treated.”

Following her March appointment, Julie initially assumed the abnormal iron reading might simply be an error or a mistake. But after discussing the results with her husband, a retired GP who wished to remain anonymous, he suspected haemochromatosis.

After Julie’s husband urged her to visit a regular GP, she visited one on May 24 with copies of her test results.

Although the GP was initially sceptical of the possible diagnosis, further blood tests were arranged. The repeat tests confirmed ferritin levels of 554 ug/L, which later rose to 798 ug/L by July. She was then advised to undergo genetic testing before she could be referred to a haematologist.

In order to know whether, excess iron had already affected her liver Julie paid privately for an MRI scan to assess, while waiting 14 weeks for the results.

The scan revealed what she described as a "slight shadow". In early September, shortly after turning 69, her GP phoned to confirm the genetic test had diagnosed hereditary haemochromatosis.

Dr Martin Thornton , chief medical officer at the company where Julie took her screening test, said hereditary haemochromatosis is caused by an inherited faulty gene received from both parents. Because iron accumulates gradually, many people do not develop symptoms until middle or later life. In women, menstruation and pregnancy naturally reduce iron levels, often delaying symptoms until after menopause.

Julie was referred urgently to a haematologist, who recommended fortnightly venesections to rapidly reduce her iron levels. She began treatment on September 24 and admitted she was frightened because she had never liked the sight of blood.

Unable to watch the procedure, Julie said she made sure to drink plenty of water before each appointment and rewarded herself with chocolate afterwards. Over the next year she underwent 15 venesections, with her ferritin level dropping to 50 ug/L by October 2025.