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Identifier

000449860

Title

Διερεύνηση αιμοσφαιρινοπαθειών σε παιδιά, εφήβους και νεαρούς ενήλικες της Βορειοδυτικής Ελλάδας : Δημογραφική εργαστηριακή και μοριακή ανάλυση

Alternative Title

Research on hemoglobinopathies in children, adolescents and young adults in Northwestern Greece

Author

Γιαννακόπουλος, Σπυρίδων

Thesis advisor

Μάκης, Αλέξανδρος

Reviewer

Γεωργίου, Ιωάννης
Στειακάκη, Ευτυχία

Abstract

The inherited disorders of hemoglobin (Hb) production are of the most common inherited single gene disorders in humans. They are characterized by a wide and interesting range of clinical phenotypes, from the asymptomatic state to a life of continuous and repeated blood transfusions. The definitive diagnosis of hemoglobinopathies requires a thorough investigation, starting from simple blood tests such as the full blood count, hb testing through helectrophoresis techniques and finally testing the molecular level of these patients for DNA mutations. Until now, more than a thousand different mutations have been found regarding the globin genes. In our study, we assessed the data of the 2017-2022 period, regarding children and young adults of ages of 1 month to 26 years old. A total of 610 persons where evaluated for hemoglobinopathies. In 133 cases a pathological helectrophoresis was observed (21.8%), while 203 had an abnormal full blood count (33.3%). 114 cases where evaluated with molecular techniques for α or β globin mutations. 57 patients had an abnormal molecular test, being classified as β thalassemia carriers (Ν=33, 28.9%), α thalassemia carriers (Ν=12, 10.5%), sickle cell disease carriers (Ν=4, 3.5%), β thalassemia homozygotes (Ν=3, 2.6%), double heterozygotes for α and β thalassemia (Ν=2, 1.8%), double heterozygotes for sickle-β thalassemia (Ν=2 ,1.8%) and one homozygote for sickle cell disease (Ν=1, 0.9%). The most common β globin mutation was Codon 39 [C>T] in 10 cases. Regarding the mutations and their correlation with the residence, most where observed in Epirus with IVS 1.110 and δβSicillian being the most common. Regarding the α globin mutations, the most common was -3.7 in 7 cases. In one case only one α gene was functional (-3.7/-med, -α/- -). This is the first major study of hemoglobinopathies in northwestern Greece that includes homozygotes and heterozygotes in the general pediatric population with an aim of helping the early diagnosis of carriers and the betterment of prevention programs as well as spreading awareness about these diseases in the general public.

Language

Greek

Subject

Mediterranean anaemia

Western Greece

Αιμοσφαιρινοπάθειες

Δυτική Ελλάδα

Μεσογειακή αναιμία

Issue date

2022-07-29

Collection

School/Department--School of Medicine--Department of Medicine--Post-graduate theses