Naslov
Molecular analysis of glucose-6-phosphate dehydrogenase deficiency in families from the Republic of Macedonia and correlation with phenotype.

Autori
Papazovska Cherepnalkovski, Anet ; Krzelj, Vjekoslav ; Glamocanin, Sofijanka ; Piperkova, Katica ; Zemunik, Tatijana ; Kocheva, Svetlana ; Coneska Jovanova, Biljana ; Aluloska, Biljana ; Zdraveska Nikolina

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

Izvornik
Zbornik radova 6. Kongres udruženja pedijatara Makedonije. Struga, 8-11. listopada 2015. / Sofijanova, Aspazija - Struga : Udrženje pedijatara Makedonije, 2015, 170-171

Skup
6. Kongres udruženja pedijatara Makedonije

Mjesto i datum
Struga, Sjeverna Makedonija, 08.10.2015. - 11.10.2015

Vrsta sudjelovanja
Predavanje

Vrsta recenzije
Domaća recenzija

Ključne riječi
G6PD deficiency; gene mutations; Republic of Macedonia

Sažetak
G6PD deficiency is the most common enzymopathy affecting more than 400 million people worldwide.More than 400 enzyme variants have been described based on their biochemical properties and grouped into five classes. Molecular analysis of the G6PD gene identified 191 mutations or combination of mutations. G6PD Mediterranean is the most common variant found in populations of the Mediterranean area. The aim of our study was to perform molecular analysis of G6PD deficiency in families from the Republic of Macedonia and correlate the findings to clinical presentation. Six patients and seven other family members were selected for genetic analysis, the selection procedure involved clinical and laboratory evaluation as well as G6PD quantitative spectrophotometric testing. All patients were first screened for the Mediterranean mutation, and subsequently for the Seattle mutation. Mutations were detected using PCR amplification and appropriate restriction endonuclease cleavage. Four hemizygotes and 3 heterozygous carriers for G6PD Mediterranean were detected. None of the patients tested positive for G6PD Seattle mutation. All G6PD deficient patients from this group showed clinical picture of hemolysis, and in 66.6% neonatal jaundice was confirmed based on history data. This study represents a step towards a more comprehensive genetic evaluation in our population and better understanding of the health issues involved.

Izvorni jezik
Engleski

Znanstvena područja
Temeljne medicinske znanosti, Kliničke medicinske znanosti

POVEZANOST RADA