Testing for haemochromatosis in the diabetic clinic

Area of Science:

• Endocrinology
• Genetics
• Gastroenterology

Background:

• Diabetes mellitus is a common condition.
• Hemochromatosis is a genetic disorder causing iron overload.
• Early diagnosis of hemochromatosis is crucial for preventing complications.

Purpose of the Study:

• To evaluate the effectiveness of serum transferrin saturation (TS) screening for identifying hemochromatosis in patients attending a diabetic clinic.
• To determine the prevalence of hemochromatosis in this patient population.

Main Methods:

• Random serum TS levels were measured in 1194 diabetic patients.
• Patients with elevated TS underwent repeat testing and further evaluation, including fasting TS, ferritin measurement, and liver biopsy.
• Family studies utilized HLA typing.

Main Results:

• Twenty-one patients had an initial random TS > 55%.
• Ten patients had fasting TS > 55%, leading to a confirmed hemochromatosis diagnosis in six patients (three previously unsuspected).
• Four additional patients had a possible diagnosis of hemochromatosis, and four family members were diagnosed, three of whom were asymptomatic.

Conclusions:

• Serum transferrin saturation measurement is a simple and effective screening tool for detecting hemochromatosis in diabetic clinics.
• This screening approach can uncover previously unsuspected cases and facilitate early diagnosis and family screening.