Iron deficiency & haemochromatosis

Question 1

Haemochromatosis

Answer 1

Definition: Genetic disorder causing excess iron (Fe) absorption and storage in organs and joints.

Cause: Faulty HFE gene, common in Northern Europeans.
Normal Fe Levels: ~3-4g; HC Levels: >20g.

Symptoms:
Common: Fatigue, weakness, weight loss, joint pain (fingers), upper abdominal discomfort, skin discoloration.

Severe: Organ damage (liver, heart, pancreas).

Diagnosis:
Genetic testing.
Blood tests: Serum transferrin saturation, serum ferritin.
Liver biopsy if liver damage is suspected.

Treatment:
Venesection: Blood removal (~500ml = 250mg Fe) weekly for 1-2 years initially, then 3-4 times/year.

Monitoring: Regular blood tests to track Fe levels.

Lifestyle:
No mandatory low-Fe diet, but some choose to reduce red meat (90-120g/day).
Avoid vitamin C supplements (increases Fe absorption).
Limit alcohol intake; avoid completely if liver damage.

Question 2

Iron Deficiency

Answer 2

Definition: Low Fe levels in the body (<30µg/L).

Symptoms:
Fatigue: Reduced oxygen transport in blood → decreased cellular energy.
Weakness: Reduced oxygen delivery to muscles.
Hypothermia: Impaired temperature regulation.
Shortness of breath (SOB): Low hemoglobin → poor oxygenation.
Brittle or spoon-shaped nails (koilonychia).
Growth delays and cognitive issues in children.

Question 3

Biochemical Measures for Fe

Answer 3

Serum/Plasma Ferritin:
Most sensitive indicator of Fe stores.
Ref Range: 20-200µg/L; <30µg/L indicates Fe deficiency.
Note: Can be affected by inflammation.

Serum/Plasma Fe & Transferrin:
Transferrin transports Fe in blood; low serum Fe + high transferrin indicates Fe deficiency.
Ref Range: 200-400mg/L.

Haematocrit:
Proportion of blood occupied by RBC.
Ref Range:
Males: 38.8-50%.
Females: 34.9-44.5%.

Other Biochemical Tests:
Total iron-binding capacity (TIBC).
Transferrin saturation.
RBC indices (MCV, mean corpuscular volume).

Question 4

CKD & Anaemia

Answer 4

Causes in CKD:
Reduced EPO Production: Impaired kidneys reduce erythropoietin (EPO), lowering RBC production.
Fe Deficiency: From dialysis blood loss, GI bleeding, and altered Fe absorption.
Chronic Inflammation: Affects Fe metabolism and utilization.
Shortened RBC Lifespan: Accumulation of toxins shortens RBC survival.
Nutritional Deficiencies: Restricted diets and poor appetite lead to Fe, B12, and folate deficiencies.

Treatment Approaches:
EPO-stimulating agents.
Fe supplementation (oral or IV).
Nutrition support and addressing underlying causes of anemia.