Cases/Genetics

Raised Ferritin and A Family History of Haemochromatosis — Free SCA Practice Case

Man with raised ferritin and a family history of haemochromatosis

Station Timer

12:00

Golden Minute

Initial Introduction

•Introduce yourself

•Ask an open question — "How can I help you today?"

•Listen — don't interrupt

•Catch early cues

Data Gathering

History, ICE & Diagnosis

Clinical Management

Diagnosis, Plan & Decisions

Safety Net

Follow-up & Close

12:00

Golden Minute

Materials for Candidate

Please review before starting the consultation

Patient Profile

Full Name

Martin Reeve

Age

53 years

Consultation Type

Telephone

Age

Situation

Telephone Consultation. The patient has booked a call to discuss his recent diagnosis and its implications for his family.

Reason for Encounter

"I've been diagnosed with haemochromatosis — the iron overload thing — and I'm having blood taken off regularly at the hospital. I feel better, but I'm worried I've passed it to my kids. Should they be tested?"

Medical Records

●PMH: Hypertension. Hereditary haemochromatosis (recently diagnosed).
●Medications: Amlodipine 10 mg OD.
●Allergies: NKDA.
●Haematology letter: Presented with fatigue and joint pain; raised serum ferritin and transferrin saturation; genetic testing confirmed homozygosity for the HFE C282Y mutation. Commenced therapeutic venesection with ferritin now in target range; symptoms improving. Ongoing venesection and monitoring via haematology/hepatology; liver ultrasound shows no cirrhosis or hepatocellular carcinoma. Advised to discuss family screening with GP. Diet advice given (avoid iron-fortified foods, vitamin C supplements, and excess alcohol).

Patient Script

For the friend playing the patient role

Character Overview: You are Martin, a 53-year-old man who works as a surveyor. You are calm and thoughtful, relieved that treatment has helped, but preoccupied with what your diagnosis means for your two adult children. You are adopted and know nothing about your biological family. You want practical answers: should your children be tested, and what does the diagnosis mean for them and for you.

Opening Sentence: "Hello, Doctor. So I was diagnosed with haemochromatosis a couple of months ago — too much iron in the blood, they said. I've been having blood taken off at the hospital regularly and I do feel a lot better. But it's genetic, isn't it? I've got a daughter of 25 and a son of 20, and I really want to know whether they need testing."

History if Asked (Data Gathering Phase)

●The diagnosis and treatment: "It started with fatigue and achy joints. Blood tests showed high iron, and then a genetic test confirmed it. They started taking blood off — venesection — and my levels have come down. I feel much better."
●Current symptoms: "The tiredness and joint aches are much improved. No tummy pain, no skin changes I've noticed, nothing else."
●His children: "My daughter's 25, my son's 20. Both well, no symptoms that I know of. They live locally but independently."
●Family history: "This is the thing — I'm adopted. I know nothing about my biological family. And my wife is adopted too, so we don't know her side either."
●Diet question: "They told me to watch iron in my diet. Does that mean I have to cut out meat and spinach and all of that completely?"

ICE — Ideas, Concerns, Expectations

The patient does not volunteer this information unprompted. These responses surface only when the candidate directly explores his perspective.

●Ideas: Martin understands it is genetic but not how it is inherited or what "carrier" means. He assumes his children are likely to have it because he does. "I know it runs in families, but I don't understand the odds. I've been assuming if I've got it, they probably have too."
●Concerns: His main concern is that his children have inherited it and could be harmed. He is also mildly anxious about his own long-term health (liver damage) and unsure about the diet. "Mostly I worry about the kids. And I suppose about my own liver, long-term. And I'm confused about what I can eat."
●Expectations: He wants to know whether and how his children should be tested, and clear dietary advice. "I'd like to know if the kids should be tested and how, and to get straight what I should and shouldn't eat."

If Asked — Medical History and Medications

The patient confirms these details only when directly asked.

●Symptoms now: "Fatigue and joint aches much better. No abdominal pain, no erectile problems, no skin bronzing that I've seen."
●Alcohol: "A couple of cans of beer at the weekend, that's about it."
●Smoking: "Never smoked."
●The children's health: "Both well. No fatigue or joint problems they've mentioned."
●Monitoring: "The hospital's keeping an eye on my liver and iron levels."

Social History and Lifestyle Impact

Martin is a surveyor. He lives with his wife; both are adopted. Two adult children live locally and independently.

●Adoption: "Both my wife and I are adopted, so neither of us knows our biological family histories at all."
●Diet: "Fairly normal diet. I do have iron-fortified cereal most mornings, now I think about it."
●Alcohol: "Light — a couple of beers at the weekend."
●Impact: "The diagnosis was a shock, but the treatment's helped and I've come to terms with it. It's the kids I think about now."

If Asked — Associated Symptoms and Red-Flag Screen

The patient answers these only when directly asked.

●If asked about persistent fatigue, joint pain, abdominal pain: "All much better since the venesection."
●If asked about erectile dysfunction: "No problems there."
●If asked about skin bronzing/darkening: "No, I've not noticed any skin changes."
●If asked about symptoms in his children: "Nothing that I'm aware of — they're both fit and well."
●If asked about mood/anxiety about the diagnosis: "I was anxious at first, but I'm okay now the treatment's working. It's the family side that's on my mind."

Responses to Management (The Negotiation Phase)

●If the Doctor explains autosomal recessive inheritance and the carrier concept: "So they might just be carriers rather than actually having it? What does being a carrier even mean?" (The tested point is explaining autosomal recessive inheritance and that children of an affected parent are at least obligate carriers, in plain terms.)
●If the Doctor advises the adult children be screened via their own GPs: "So they arrange it themselves through their GP? What test do they get?" (The tested point is advising screening of first-degree relatives over 16 with ferritin and transferrin saturation, plus genetic testing where indicated.)
●If the Doctor answers the diet question: "So I don't have to give up steak and spinach? I thought all iron was bad for me now." (The tested point is clarifying that natural dietary iron in moderation is fine on treatment, and that the key is avoiding iron-fortified foods, iron and vitamin C supplements, and excess alcohol.)
●If the Doctor discusses his own monitoring/prognosis: "So as long as I keep having the blood taken off, I'll be alright?"
●If the Doctor addresses the unknown family history: "Does it matter that neither of us knows our real family history?"

Mark Scheme

Domain 1: Data Gathering and Diagnosis

0 / 16 indicators checked+0−0

Positive (0/8)

Negative (0/8)

Domain 2: Clinical Management and Medical Complexity

0 / 20 indicators checked+0−0

Positive (0/10)

Negative (0/10)

Domain 3: Relating to Others

0 / 12 indicators checked+0−0

Positive (0/6)

Negative (0/6)

Clinical Learning Points

Hereditary Haemochromatosis

●Hereditary haemochromatosis (HHC) is a disorder of increased intestinal iron absorption, leading to iron accumulation in tissues — particularly the liver, but also the heart, pancreas, joints, and endocrine organs — which can cause organ damage if untreated.
●It is most commonly caused by homozygosity for the HFE C282Y mutation.

Inheritance — Autosomal Recessive

●HHC is usually autosomal recessive: an individual must inherit two faulty copies (one from each parent) to be affected. (An exception is the rare type 4, which is autosomal dominant.)
●The children of an affected (homozygous) parent inherit one faulty copy from that parent and are therefore at least carriers; whether they are affected depends on the copy inherited from the other parent.
●This contrasts with autosomal dominant conditions (e.g. ADPKD), where one faulty copy is sufficient and each child has a 50% chance of being affected.

The Carrier Concept

●Carriers (one faulty copy) are usually asymptomatic, though a minority can accumulate mildly raised iron. Identifying carriers is still worthwhile, and carrier status is relevant for their own family planning.

Presentation and Complications

●HHC is often asymptomatic early. Symptoms typically emerge between 40 and 60 in men, and after the menopause in women (menstrual blood loss is protective earlier).
●Features: fatigue, joint pain (arthropathy), non-specific abdominal discomfort, erectile dysfunction, and, in advanced disease, skin bronzing, diabetes, cardiomyopathy, and liver cirrhosis/hepatocellular carcinoma.

Screening At-Risk Relatives

●Offer screening to first-degree relatives over the age of 16 with serum ferritin and transferrin saturation, and genetic (HFE) testing where indicated.
●Carrier/genetic testing is not recommended in healthy young children — HHC is adult-onset and testing is deferred until over 16, when the person can understand the implications.

Treatment and Monitoring

●Therapeutic venesection is the mainstay, aiming to bring and keep ferritin and transferrin saturation within target ranges.
●Ongoing monitoring for liver disease (and other organ involvement) is important given the risk of cirrhosis and hepatocellular carcinoma with iron overload.

Dietary and Lifestyle Advice

●Patients do not need to avoid foods naturally containing iron (red meat, spinach) — these are fine in moderation while on treatment.
●Key measures: avoid iron-fortified foods (some breakfast cereals), avoid iron and vitamin C supplements (vitamin C increases iron absorption), and limit alcohol to protect the liver.

Common Candidate Mistakes in This Case

●Getting the inheritance wrong: explaining haemochromatosis as dominant, or implying all children are definitely affected, rather than explaining recessive inheritance and the carrier concept.
●Testing young children: recommending genetic/carrier testing in healthy children rather than screening relatives over 16.
●Wrong dietary advice: telling the patient to cut out all dietary iron, rather than clarifying that natural iron in moderation is fine and the key is fortified foods, supplements, and alcohol.
●Neglecting monitoring: failing to reinforce ongoing venesection and liver monitoring.
●Missing the agenda: not prioritising and clearly answering his central question about testing his children.

Free MRCGP SCA practice case for GP registrars covering Raised Ferritin and A Family History of Haemochromatosis — Genetics. Includes candidate brief, patient script, marking scheme mapped to the RCGP SCA marking domains, and learning points. Built directly from the RCGP curriculum topic stations listed under "How this might be tested in the MRCGP SCA," part of a free library of 79 SCA practice cases for simulated consultation assessment preparation.

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