A 40-year-old non-alcoholic male patient presented to the OPD with jaundice, lethargy, ahralgia, skin pigmentation, loss of libido, polyuria, polydipsia and exeional dyspnea. O/E, Hepatosplenomegaly Increased pigmentation and spider angiomas Ahropathy Ascites Loss of body hair and testicular atrophy Iron studies were done. LFTs were deranged and insulin levels were raised. Liver biopsy was also performed. Patient had no history of intake of any long-term medication. Iron studies are: - Plasma iron - 200 microgm/dL TIBC- 300 microgm/dL Transferrin saturation -90% Serum ferritin -5000 microgm/L Liver iron -10000 microgm/ gm of dry weight Hepatic iron index - 3 Which is the most common mutation seen in the above condition: -
This is a case of haemochromatosis with C282Y mutation. HPE image shows Prussian blue-stained section, hepatocellular iron appears blue. The most common HFE mutation is a cysteine-to-tyrosine substitution at amino acid 282 (called C282Y). The other common mutation is H63D (histidine at position 63 to aspaate). DETERMINATION NORMAL SYMPTOMATIC HAEMOCHROMATOSIS PLASMA IRON (microgm/dL) 9-27 180-300 TIBC (microgm/dL) 45-66 200-300 TRANSFERRIN SATURATION % 22-45 50-100 SERUM FERRITIN (microgm/L) 20-150 1000-6000 LIVER IRON (microgm/ gm dry wt.) 300-1400 6000-18000 HEPATIC IRON INDEX <1 >2
C282Y
H63D
H62D
C283Y
Integrated QBank