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Updated: Jul 10, 2026
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Detection of Residual Donor Erythroid Progenitor Cells after Hematopoietic Stem Cell Transplantation for Patients with Hemoglobinopathies
Published on: September 6, 2017
Erythropoietic protoporphyria patients in Slovenia
P B Marko1, J Miljković, M Gorenjak
1Department of Dermatology and Venerology, University Medical Centre, Maribor, Ljubljanska 5, SI- 2000 Maribor, Slovenia. pij.marko@sb-mb.si
Acta Dermatovenerologica Alpina, Pannonica, Et Adriatica
|November 13, 2007
Summary
This study estimates the prevalence of erythropoietic protoporphyria (EPP) in Slovenia. Researchers found EPP affects approximately 1.75 per 100,000 individuals, highlighting a rare genetic disorder.
Area of Science:
- Medical Genetics
- Epidemiology
- Dermatology
Background:
- Epidemiological data on erythropoietic protoporphyria (EPP) prevalence is limited.
- Understanding EPP prevalence is crucial for public health and patient support.
Purpose of the Study:
- To determine the prevalence of EPP in the Slovenian population.
- To address the scarcity of epidemiological data for this rare genetic disorder.
Main Methods:
- Patient identification through routine examination of photosensitive individuals.
- Analysis of hospital records for potential EPP cases.
- Quantitative spectrophotometric assessment of protoporphyrin levels.
Main Results:
- Thirty-two patients diagnosed with EPP were identified.
- The estimated prevalence of EPP in Slovenia is 1.75 per 100,000 inhabitants.
- Protoporphyrin levels exceeding 530 nm/l were indicative of EPP.
Conclusions:
- This study provides the first epidemiological data on EPP prevalence in Slovenia.
- The findings suggest EPP is a rare condition within the studied population.
- Further research may be warranted to confirm these prevalence estimates in other regions.
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