Naslov
Innovative Whole Genome Joint Analysis – case report of early diagnosis and preventive approach to HFE Hemochromatosis

Autori
Kulaš, Marjan ; Gržan, Dina ; Kukić, Sandro ; Lovrenčić, Luka ; Ćuk, Mario

Vrsta, podvrsta i kategorija rada
Sažeci sa skupova, sažetak, stručni

Izvornik
Liječnički vijesnik / - : Hrvatski liječnički zbor, 2023, 70-70

Skup
18th Croatian Student Summit

Mjesto i datum
Zagreb, Hrvatska, 25.04.2023. - 28.04.2023

Vrsta sudjelovanja
Poster

Vrsta recenzije
Domaća recenzija

Ključne riječi
Genetic Variations ; Primary Hemochromatosis ; Whole Genome Sequencing

Sažetak
INTRODUCTION/OBJECTIVES: Whole Genome Joint Analysis is an innovative method to elucidate the full spectrum of genome complexities and alterations in the family members, comprehensively and unbiasedly. Once identified in the preclinical phase of the disease, causative variants can anticipate a personalized preventive approach and medical treatment. CASE PRESENTATION: We present a patient who is the mother of our index child whom we evaluated for a rare disease. Therefore, the mother was a „healthy“ participant in this research. The biallelic variants of the HFE gene have been identified: p.Cys282Tyr and p.His63Asp which makes the patient compound heterozygous for the HFE gene, therefore having hemochromatosis type 1b. Often the first signs are arthropathy, an increase in skin pigmentation, cardiomyopathy, hepatomegaly, and common nonspecific symptoms. Women are affected less frequently than men. However, our patient is female and has a low to moderate genotype but has developed symptoms at the age of 40. Screening using transferrin saturation, noninvasive liver, and quantitative cardiac MRI may be considered to support the diagnosis. Periodic phlebotomy is a simple and effective treatment. Results of the deferasirox (Exjade®) trial suggest that the oral iron chelator is effective at reducing iron burdens within an acceptable safety profile. CONCLUSION: The “CroSeq-GenomeBank” project which enabled us to diagnose our patient with primary hemochromatosis, acts as an innovative and precise basis for personalized medicine using artificial intelligence. It is an expensive and insufficiently accessible approach that would mean a lot to us as a society if we were to maintain our profession at the highest level.

Izvorni jezik
Engleski

Znanstvena područja
Kliničke medicinske znanosti

POVEZANOST RADA