Improved detection of hereditary haemochromatosis

Abstract

The large number of SF requests received from primary care should be used as a resource to improve the diagnosis of HH in areas of high prevalence.

Using iron studies to predict HFE mutations in New Zealand: implications for laboratory testing

“…This is consistent with two recent UK-based studies 22,25 and demonstrates a wide lack of adherence to best practice guidelines. This is consistent with two recent UK-based studies 22,25 and demonstrates a wide lack of adherence to best practice guidelines.…”

“…5,[19][20][21] However, Oglivie et al 22 recommended a TS threshold of 50%, which if applied to our data would have incorrectly classed a further two C282Y male homozygotes as negative. 5,[19][20][21] However, Oglivie et al 22 recommended a TS threshold of 50%, which if applied to our data would have incorrectly classed a further two C282Y male homozygotes as negative.…”

Diagnosis and therapy of genetic haemochromatosis (review and 2017 update)

“…The highest values were found in the Melbourne study which only accepted volunteers aged 40–70 years (Allen et al , ). The apparent predominance of new female homozygotes in the HEIRS, Melbourne and West of Scotland publications (Adams et al , ; Allen et al , ; Ogilvie et al , ) simply reflects the predominance of female volunteers and patients. From the West of Scotland study (Ogilvie et al , ) the following predictive algorithm was developed to assist early diagnosis for patients >30 years in primary care;…”

“…The prevalence of SF values >1000 μg/l appears to be more common in primary care patients (Ogilvie et al , ) than in volunteer studies but even in an area of high prevalence only 29 of 180 such patients were found to be C282Y homozygotes (Ogilvie et al , ).…”

Gastroscopy findings in a patient with signet ring cell carcinoma and late‑onset hereditary hemochromatosis

“…It is characterized by silent progression, and its main feature is increased intestinal iron absorption, leading to iron overload, which causes dysfunction of multiple organs, particularly the liver, pancreas, heart, joints, and skin. 1 A 70 -year -old woman with a history of hypertension, hypercholesterolemia, episodes of heart palpitation, headaches, heavy depression, lack of appetite, with a loss of 8 kg of body weight over the previous 10 months, as well as arthralgia of the knee, was admitted to our hospital for a detailed diagnostic workup due to her deteriorating condition.…”