Naslov
Public health aspects of early detection of Glucose-6-Phosphate–Dehydrogenase enzyme deficiency in the Republic of Croatia

Autori
Ćurin, Katja ; Krželj, Vjekoslav ; Markić, Joško ; Karaman, Ksenija ; Pavlov, Neven ; Terzić, Janoš ; Stoini, Eugenio ; Radonić, Marija

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

Izvornik
Paediatria Croatica / Barišić, Ingeborg - Zagreb, 2009, 50-50

Skup
UMEMPS 2009-Croatia 32nd UMEMPS Congress

Mjesto i datum
Dubrovnik, Hrvatska, 30.09.2009. - 03.10.2009

Vrsta sudjelovanja
Poster

Vrsta recenzije
Nije recenziran

Ključne riječi
Glucose-6-posphate deficiency; public health; Croatia

Sažetak
Based on the sample of 2, 762 high school children originating from Mid Croatia and the sample of 302 men originating from Komiža, the Island of Vis, the researchers operating in the Republic of Croatia have established the frequency of glucose-6-phosphate dehydrogenase ( G-6-PD ) enzyme deficiency to be 0.44 % and 5.96%, respectively. Across the investigation, six distinctive gene mutations have been disclosed (Mediterranean, Union, Cassano, Consenza, Seattle), among which one (G-6-PD Split) newly-discovered. Based on the results published insofar, the article deals with public health aspects of consequences arising from G-6-PD enzyme deficiency (in terms of hospitalizations, treatment complications, and alike), encountered among the population of the Republic of Croatia. It is to be expected that the continuation of research will reveal those differences in the named enzyme deficiency to be present in other Croatian regions as well, and allow for the determination of areas at higher risk and for shaping the appropriate public health strategy and approach. Clinical presentation arising from G-6-PD enzyme deficiency, most commonly encountered in our Homeland, is fauvism. However, public health relevance of neonatal jaundice and possible complications during pharmacotherapy should also be taken into account. Given that fauvism may be disclosed by newborn-targeted screening and that the prevention may be attained by educating parents on how to choose an appropriate dietary regimen, screening and education pose as key drivers of public health initiative. Namely, following screening implementation Greece has witnessed a decrease in fauvism-related hospitalization rate from 0.31% to 0.08% ; significant decrease in the same was also achieved in Italy (Sardinia). Given the public health relevance of these issues and global experiences gained in this field of expertise, the establishment of the Registry of Persons Suffering from G-6-PD Enzyme Deficiency is proposed herein, so as to be able to monitor and investigate the prevalence of pertinent clinical manifestations and their association with various gene mutations within the Republic of Croatia. The importance of population genetics, i.e. of the comparisons between our Homeland and other, riskier parts of the world (Mediterranean, Greece, Italy, Turkey, South-East Asia, Thailand, Saudi Arabia, United Arab Emirates, etc.) is beyond questioning. Newborn-targeted screening carried out in riskier regions, together with health education and promotion, would ultimately lead to the fauvism incidence lowering, and would alleviate the severity of clinical presentations of other gene mutations ; from the public health standpoint, this would result in a significant “leap forward”.

Izvorni jezik
Engleski

Znanstvena područja
Kliničke medicinske znanosti

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