Hereditary Hemochromatosis Case Study

Flashcards based on the lecture notes about hereditary hemochromatosis case study.

Hereditary Hemochromatosis (HH)

An autosomal recessive disorder characterized by dysregulated intestinal iron absorption, leading to progressive iron overload and deposition in parenchymal tissues.

HFE Gene Mutations (C282Y and H63D)

Genes that when mutated, disrupt hepcidin regulation, the central hormone in systemic iron homeostasis.

Ferrozine Method

A widely utilized colorimetric assay for the quantification of soluble ferrous iron (Fe²⁺) in serum samples, based on the formation of a stable magenta-colored complex resulting from the reaction between Ferrozine and Fe²⁺ ions.

Cyanmethemoglobin Method

A method where blood sample from the patient is added to Drabkin’s reagent containing potassium cyanide and potassium ferricyanide, to form ‘cyanmethemoglobin’ to measure hemoglobin concentration.

PCR-RFLP

A method using two primer pairs to test two mutations in exon 2 (H63D) and exon 4 (C282Y). Restriction enzymes Mbol (exon 2) and Rsal (exon 4) are used to cut the PCR products.

Transferrin Saturation (TSAT)

Indicates the amount of transferrin binding sites that are occupied by iron, and can be calculated as the sum of serum iron and UIBC converted to a percentage.

Hepcidin

A circulating peptide hormone that is a negative regulator of iron absorption by enterocytes.