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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
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Γιαννακόπουλος, Σπυρίδων
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Thesis advisor
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Μάκης, Αλέξανδρος
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Reviewer
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Γεωργίου, Ιωάννης
Στειακάκη, Ευτυχία
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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.
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Language |
Greek |
Subject |
Mediterranean anaemia |
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Western Greece |
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Αιμοσφαιρινοπάθειες |
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Δυτική Ελλάδα |
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Μεσογειακή αναιμία |
Issue date |
2022-07-29 |
Collection
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School/Department--School of Medicine--Department of Medicine--Post-graduate theses
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Type of Work--Post-graduate theses
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Permanent Link |
https://elocus.lib.uoc.gr//dlib/c/4/a/metadata-dlib-1657713364-524454-4678.tkl
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Views |
393 |
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