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Hereditary hemochromatosis: data from a single center Copenhagen cohort
Rikke Therkildsen1, Eva Efsen Dahl1, Frank Vinholt Schiødt1
1Division of Gastroenterology, Digestive Disease Center K, Bispebjerg Hospital, Copenhagen, NV, Denmark.
Insights
Hereditary hemochromatosis (HH) patients show a high rate of compound heterozygous HH (CHH), nearly one-third of cases. Symptoms and severity did not differ between HHH and CHH, suggesting similar treatment approaches.
Area of Science:
- Internal Medicine
- Genetics
- Gastroenterology
Background:
- Hereditary hemochromatosis (HH) is a genetic disorder of iron overload.
- Understanding the clinical presentation and genotypic variations in HH is crucial for effective management.
Purpose of the Study:
- To describe a cohort of hereditary hemochromatosis patients from a single urban center.
- To compare clinical characteristics and outcomes between homozygous (HHH) and compound heterozygous (CHH) forms of HH.
Main Methods:
- Retrospective data collection from HH patients between 2009-2020.
- Analysis of patient demographics, iron studies (ferritin, transferrin saturation), symptoms, and organ complications.
Main Results:
- A cohort of 203 HH patients was analyzed, with 69.4% HHH and 30.6% CHH.
- HHH patients exhibited significantly higher ferritin and transferrin saturation levels at diagnosis compared to CHH patients.
- Nearly half of patients presented with symptoms such as arthralgias and fatigue; symptom prevalence did not differ between HHH and CHH groups.
Conclusions:
- Compound heterozygous HH (CHH) constitutes a significant proportion of the HH patient population.
- Clinical presentation and symptoms are similar between HHH and CHH, supporting unified treatment and examination protocols for both genotypes.
Objectives:
We aimed to describe a cohort of hereditary hemochromatosis (HH) patients from a single urban center in Copenhagen.
Methods:
Retrospectively, data from patients with HH from the years 2009-2020 were collected.
Results:
A total of 203 patients was recorded. Males constituted 65.0% of the patients. Homozygous HH (HHH)/compound heterozygous HH (CHH) accounted for 69.4%/30.6%. HHH patients had significantly higher ferritin and transferrin saturation (TS) levels at debut than CHH patients. Fifty-five HHH patients (39.0%) had ferritin >1000 ug/L versus 9 (14.5%) in the CHH group (p < .001). Age at debut did not differ between female and male patients. Ferritin (but not TS) levels were significantly higher in male patients. The proportion of patients with ferritin >1000 did not differ between males and females. One-hundred patients (49.3%) had one or more symptoms at the time of diagnosis; arthralgias of the metacarpophalangeal joints and/or ankles (n = 46 (22.7%)), fatigue (n = 67 (33.0%)) and decreased libido (n = 20 (9.9%)). The proportion of patients with symptoms did not differ between HHH and CHH or between male and female patients. Severe organ complications (cardiomyopathy, late onset type 1 diabetes or cirrhosis) were present in 14 patients (6.9%).
Conclusions:
We report a high proportion of compound HH, constituting almost one-third of patients. We found that the proportion of patients with symptoms did not differ between HHH and CHH and recommend that CHH should be treated and examined in the same way as HHH.
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