Retrospektivna analiza zaznanih različic hemoglobina v Univerzitetnem kliničnem bolnišničnem centru Zagreb v obdobju od 2018 do 2020

Teskera, Mirna (author), Jeras, Matjaž (mentor), Šegulja, Dragana (comentor)

Z izrazom hemoglobinopatije označujemo skupino bolezni, povezanih z motnjami sinteze globina, ki s hemom tvori strukturo molekule hemoglobina (Hb). Prvi korak pri diagnosticiranju hemoglobinopatije je hemoglobinski test. Izvajamo ga z elektroforezo Hb, s katero določamo prisotnost njegovih različic v testiranih vzorcih. V okviru magistrske naloge smo želeli prikazati primerjavo opravljenih elektroforeznih testov hemoglobina in števila z njimi zaznanih različic tekom vsakega meseca v obdobju od januarja 2018 do decembra 2020. Skupno smo retrospektivno analizirali 1061 elektroforeznih profilov hemoglobina, in sicer 312 iz leta 2018, 455 iz leta 2019 in 294 iz leta 2020. Od vseh analiziranih rezultatov, jih je bilo 24,4% izven referenčnega intervala. Med pregledom rezultatov smo naleteli na različne variante Hb: S, E, D, Lepore ter naše rezultate predstavili s pomočjo slik, ki jih je generiral aparat, s katerim so bile izvedene analize. Odkrite različice so povezane z nekaterimi boleznimi. Med temi je najbolj znana anemija srpastih celic zaradi prisotnosti variante HbS. Danes imamo na voljo tudi test za odkrivanje potencialnih nosilcev genov za hemoglobinopatije, ki so predvsem podedovane motnje, poleg tega pa lahko testiramo že plod, da bi ugotovili, ali je prizadet s hemoglobinopatijo. Čeprav gre za redke bolezni, jih je treba spremljati, saj v zadnjem času zaradi povečanega števila migracij in podeljenih azilov v evropskih državah prihaja do povečane pojavnosti hemoglobinopatij.

• Language: Slovenian
• Keywords: hemoglobin, hemoglobinopatija, različice hemoglobina, elektroforeza
• Work type: Master's thesis/paper
• Organization: FFA - Faculty of Pharmacy
• Year: 2021
• PID: 20.500.12556/RUL-131347
• Publication date in RUL: 25.09.2021

Secondary language

• Language: English
• Title: Retrospective analysis of hemoglobin variants detected at the University Clinical Hospital Centre Zagreb from 2018 to 2020

Abstract

The term hemoglobinopathies refers to a group of diseases associated with disorders of globin synthesis, that form the structure of the hemoglobin molecule (Hb) with heme. The first step in diagnosing hemoglobinopathy is a hemoglobin test. It is performed by Hb electrophoresis, which determines the presence of its variants in the tested samples. As part of the master's thesis, we wanted to show a comparison of performed electrophoresis tests of hemogobin and the number of detected variants during each month in the period from January 2018 to December 2020. In total, we retrospectively analyzed 1061 electrophoresis hemoglobin profiles, of which 312 from 2018, 455 from 2019 and 294 from 2020. Of all analyzed results, 24,4 % were outside the reference interval. During the review of the results, we came across different variants of Hb: S, E, D, Lepore and presented our results with the help of images generated by the apparatus with which the analyzes were performed. The discovered variants are associated with certain diseases. Among these, sickle cell anemia due to the presence of HbS variant is the best known. Today, we also have a test avaliable to detect potential carriers of genes for hemoglobinopathies, which are primarly inherited disorders, and in addition, we can already test the fetus to determine if it is affected by hemoglobinopathy. Altough they are rare diseases, they need to be monitored, as the incidence of hemoglobinopathies has recently increased in European countries due to the increased number of migrations and shared asylum.

• Keywords: hemoglobin, hemoglobinopathy, hemoglobin variants, electrophoresis