Iron Overload

Haematology
Written By Maladywise
 

Hereditary and acquired iron overload HTT How to Treat — Hereditary and acquired iron overload

Iron Metabolism

Body stores 4g of iron. RDI is 8-18mg. Haem and non-Harm sources. Heme in meat, non-Heme in fruit and vegetables. Iron absorption from non-Heme sources is reduced by phytates and polyphenols. Absorption occurs in duodenum and iron deficiency. Transported into enterocyte by a transporter, stored in cell as Ferritin. Transported into circulation via Ferroportin. Storage sites include Haemoglobin, myoglobin in muscles, circulating transferrin, and as ferritin in liver, spleen and bone marrow.

Bloods

  • Iron Deficient (Serum Fe down, Transferrin down, Ferritin down, PO Fe = normalises)

  • Iron Deficient + Acute Phase (Serum Fe down, Transferrin N or down, Ferritin variable, PO Fe = Partial response)

  • Acute Phase (Serum Fe down, Transferrin down, Ferritin up, PO Fe = no response)

  • Iron Overload (Serum Fe up, Transferrin up, Ferritin up)

Serum iron = total iron bound to transferrin

Ferritin = intracellular and extracellular protein that stores iron

Causes of elevated serum ferritin

  • Iron overload

    • HFE and non HFE haemochromatosis.

    • Thallasemias

    • chronic red cell transfusions due to malignant anaemias

    • Porphyrria cutanae tara

  • Increased Ferritin secretion from cellular injury

    • Acute hepatitis, liver necrosis, hepatic steatosis, chronic hepatitis

    • Metabolic syndrome

    • Alcohol

    • Malignancy

    • Infections

Common Causes

Hereditary Haemochromatosis. 0.3% of population. HFE gene mutation.

C282Y homozygous risk of iron overload is 14%

H63D mutation in 25% of adults. Homozygous H63DD rarely develop overload < 7%.

Compound C282Y and H63D mutations have high ferritin but overall morbidity remains low.

Management

  • Venesection recommended for 282Y homozygous with weekly venesection if Ferritin > 300, with target 20-50, maintenance venesection 3-6 monthly thereafter

  • Lifestyle, reduce alcohol, avoid supplements

  • End organ evaluation (Heart, Liver, Endocrine)

End Organ Ax

Liver - Rare Biopsy, MRI, Ultrasound

Cardiac - ECG, Echo, Cardiac MRI

Endocrine - Pancreas (T2DM), Pituitary (Hypogonadotropic hypogonadism)

 
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