Action Items and Monitoring Plan

Priority Cascade

flowchart TD
    subgraph Immediate
        GP[GP Appointment] --> PHB[Phlebotomy Referral]
        GP --> MRI[Hepatic Iron MRI]
        GP --> GENE[Extended Iron Gene Panel]
    end

    subgraph ST["Short-Term - 1-3 Months"]
        ENDO[Endocrine Panel]
        PHARM[Pharmacogenomics / MTHFR]
        XRAY[Hand + Spine Imaging]
        VITD[Vitamin D Test]
    end

    subgraph Ongoing
        QB[Quarterly Bloods] --> FTRK[Ferritin + TSAT Tracking]
        SR[Supplement Review] --> ADJ[Dose Adjustments]
        AN[Annual Full Panel]
    end

    MRI -->|confirms overload| PHB
    PHB -->|Hb adequate?| D1{Decision Gate}
    D1 -->|Yes| START[Begin Phlebotomy]
    D1 -->|No| WAIT[Defer + Recheck]

    FTRK -->|target met?| D2{Decision Gate}
    D2 -->|Ferritin 50-100| MAINT[Maintenance Phase]
    D2 -->|Still elevated| PHB

    classDef immediate fill:#f0b27a,stroke:#ca6f1e,color:#1a1000
    classDef shortterm fill:#85c1e9,stroke:#2471a3,color:#0a1929
    classDef ongoing fill:#58d68d,stroke:#1e8449,color:#0a1f12
    classDef gate fill:#d5dbdb,stroke:#7f8c8d,color:#1a1a1a

    class GP,PHB,MRI,GENE immediate
    class ENDO,PHARM,XRAY,VITD shortterm
    class QB,SR,AN,FTRK,ADJ ongoing
    class D1,D2 gate

Priority Assessment

Based on synthesis across all research notes, your situation is:

Your phenotype overrides your genotype. You need management as someone with iron overload, not reassurance based on statistics.

Tier 1 — Discuss With GP/Haematologist Urgently

1. Request Hepatic Iron MRI (T2* / FerriScan)

2. Discuss Therapeutic Phlebotomy

3. Investigate Other Iron-Loading Genes

Tier 2 — Investigate Within 1-3 Months

4. Lumbar Spine and Hand Imaging

5. Recheck Minerals With Functional Tests

6. Full Blood Count + Reticulocytes

Tier 3 — Ongoing Monitoring

Regular Blood Panel (Every 6 Months During Active Management)

Test Target Notes
Ferritin 50-100 ug/L Primary monitoring metric during phlebotomy
Transferrin saturation < 50% Key risk marker for NTBI
Serum iron Mid-range
Full blood count Hb > 120 g/L (pre-phlebotomy) Ensure not over-depleting
ALT < 50 iu/L Hepatocyte integrity

Annual

Test Purpose
Liver function panel Screen for emerging hepatic damage
Copper + zinc Track recovery after iron reduction
Fasting glucose / HbA1c Iron overload increases diabetes risk
Cardiac review if symptoms Iron cardiomyopathy (rare in compound hets but worth baseline awareness)

Dietary Actions (Immediate, Ongoing)

See Dietary Management - Iron Overload for full detail.

Quick Wins

Mineral Considerations

ADHD/Autism-Specific Considerations

What to Say to Your GP

"My genetics came back as C282Y/H63D compound heterozygote, which the lab says is usually benign. However, my transferrin saturation is 60% and ferritin is 380 despite dietary changes (down from 700). The EASL guidelines recommend hepatic iron MRI for non-C282Y homozygotes with these iron parameters. I'd like to discuss MRI assessment and whether phlebotomy is appropriate."

This frames your request within clinical guidelines and avoids the conversation being dismissed based on genotype alone.

Tracking Template (For Your Records)

Date Ferritin TSAT Iron Copper Zinc Hb Notes
Dec 2025 738 — 26 — — 168 Baseline; thyroid normal; folate LOW (6.8); RHR 88; see Blood Results - December 2025
Mar 2026 380 60% 32 14.3 12.5 — ↓48% ferritin; TSAT above NTBI threshold; see Blood Results - March 2026
Next test Target: post-MRI/phlebotomy decision

Cross-References