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Časopis Internal medicine – Článok Diagnostics and survival prognosis of inborn haemolytic anaemias from enzyme deficit in Slovakia

Internal medicine

Peer - Reviewed Postgraduate Medical Journal.
Period 11x per year (july - august double issue)
1335-8359
The journal is indexed in the Slovak National Bibliography, Bibliographiia Medica Slovaca (BMS) and listed to citation database CiBaMed. All articles are reviewed. The publisher does not bear any responsibility for data and opinions of particular authors of the articles or advertisements. The articles on grey pages are company promotions or non reviewed information, an author is responsible for the content. Any reproduction of the content is allowed only with direct consent of the editorial office.
Predplatné
Internal medicine
Internal medicine
Peer - Reviewed Postgraduate Medical Journal.
Period 11x per year (july - august double issue)
Predplatné
Téma: Original works

Diagnostics and survival prognosis of inborn haemolytic anaemias from enzyme deficit in Slovakia

Adriena Sakalová , Tomáš Lipšic, Viera Fábryová, Tatiana Hammerová

Background: Statistical data on the world-wide increase in the number of patients suffering from haemolytic anaemias
(especially haemoglobinopathies) are the reason why we should deal with these issues more intensively also here in
Slovakia. According to the epidemiological research, the disease-carrying of the glucose-6-phosphate dehydrogenase
enzyme deficiency is estimated in 400 million and disease carrying of haemoglobinopathies of beta-thalassaemia type
in 240 million patients in the world. Disease-carrying of hereditary enzymopathies is sporadic. The risk of toxic influence
of outer environment on blood haemopoiesis and present world-wide immigration crisis increases the incidence of
haemolytic anaemias and risks of sudden life-threatening haemolytic syndromes.
Patients and methods: In the group of carriers of inborn erythrocyte disorders (membranopathies, haemoglobinopathies,
enzymopathies) in continuing health care since 1976 at the Clinic of Haematology and Transfusiology in
Bratislava we detected the diagnosis according to a clinical picture and screening laboratory diagnostics. In the group
of enzymopathies (glucose-6-phosphate dehydrogenase – G6PD, pyruvate kinase - PK and glucose-6-phosphate isomerase
– GPI) we completed the diagnosis with biochemical-kinetic analysis as circumstances allowed. After a long monitoring
we provide a retrospective information on overall survival of patients with inborn enzyme erythrocyte disorder,
which outwardly most frequently manifest as non-spherocytic haemolytic anaemia.
Results: We provide data from the literature, which we completed with own long-term experience. In our group of inborn
haemolytic anaemias we found: membranopathies in 55 %, haemoglobinopathies in 30 % and enzymopathies in
10.5 % of patients and 4.5 % other anaemias. We introduce probands with double heterozygous disease-carrying and
severe non-spherocytic haemolytic anaemia since the birth: one patient with the Beverly Hill variant of G6PD deficiency
had zero enzyme activity, 25 patients had a medium decrease in G6PD activity (according to WHO classification class II
-III), 14 patients had various PK deficiency (in one case with zero activity) and 3 were GPI deficiency carriers. In the majority
of patients a long-term survival over 40 years has been found. Our experience we completed with the presentation
of case studies, a discussion and submission of suggestions for improvements in present diagnostics, treatment
and prognosis in our conditions.

hereditary non-spherocytic haemolytic anaemia (HNHA), hereditary haemolytic anaemia (HHA), erythrocyte enzymopathy, glucose-6-phosphate hydrogenase, pyruvate kinase
Interná med. 2016; 16 (11): 437-441

Ročník 2016  Témy časopisu Internal medicine 11 / 2016

Original works

Adriena Sakalová , Tomáš Lipšic, Viera Fábryová, Tatiana Hammerová
Matej Vnučák, Renáta Michalová, Margita Belicová, Marián Mokáň

Overview works

Ľubomíra Fábryová
Mária Rašiová, Ľubomír Špak, Ľudmila Farkašová, Martin Koščo, Štefan Pataky, Marek Hudák, Matej Moščovič
Andrej Dukát, Peter Sabaka, Michal Pečík, Juraj Payer, Fedor Šimko
Ivana Trojová, Ružena Tkáčová, Pavol Joppa
Anna Vachulová
Nie sú dostupné žiadne voľne dostupné články
CHAIRMAN OF THE EDITORIAL BOARD
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REPRESENTATIVE OF CHAIRMAN
prof. MUDr. Juraj Payer, CSc., FRCP

MEMBERS OF THE EDITORIAL BOARD
doc. MUDr. Viera Fábryová, CSc.
MUDr. Viera Fedelešová, CSc.
prof. MUDr Martin Haluzík, CSc.
prof. MUDr. Štefan Hrušovský, CSc. Dr.SVS.
prof. MUDr. Rudolf Hyrdel, CSc.
doc. MUDr. Oľga Jurkovičová, CSc.
doc. MUDr. Zdenko Killinger, PhD.
doc. MUDr. Soňa Kiňová, PhD.
prof. MUDr. Peter Mitro, PhD.
doc. MUDr. Viliam Mojto, CSc., MHA
prof. MUDr. Karel Pacák, DrSc.
prof. MUDr. Juraj Payer, CSc., FRCP
doc. MUDr. Ján Podoba, CSc.
prof. MUDr. Igor Riečanský, DrSc.
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doc. MUDr. Mária Szántová, PhD.
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Examples of citations:
1. Shaheen NJ, Crosby NA, Bozymski EM, et al. Is there publication bias in the reporting cancer risk in Barrett ́ esophagus? Gastroenterology 2000; 119: 333-338.
2. Stenestrand U, Wallentin L. Swedish Register of Cardiac Intensive Care (RIKS-HIA): Early statin treatment following acute myocardial infarction and 1-year survival. JAMA 2001; 285(4): 430-436.
3. LIPID Study Group. Prevention of cardiovascular events and death with pravastatin in patients with coronary heart disease and a broad range of initial cholesterol levels. N Engl J Med 1998; 339: 1349-1357.
4. Jurkovičová O, Spitzerová H, Cagáň S. Komorové arytmie a náhla srdcová smrť pri akútnom infarkte myokardu. Bratisl Lek Listy 1997; 98: 379-389.
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Send contributions in the e-mail to the address: stachova@amedi.sk
Period 11x per year (july - august double issue)
1335-8359
The journal is indexed in the Slovak National Bibliography, Bibliographiia Medica Slovaca (BMS) and listed to citation database CiBaMed. All articles are reviewed. The publisher does not bear any responsibility for data and opinions of particular authors of the articles or advertisements. The articles on grey pages are company promotions or non reviewed information, an author is responsible for the content. Any reproduction of the content is allowed only with direct consent of the editorial office.
Predplatné
Internal medicine
Internal medicine
Peer - Reviewed Postgraduate Medical Journal.
Period 11x per year (july - august double issue)
Predplatné