Babameto-Laku, A., Mitre, A., Berisha, S., Mokini, V. and Roko, D. (2011) Molecular Genetic Characterization of β-Thalassemia and Sickle Cell Syndrome in the Albanian Population. Balkan Journal of Medical Genetics, 14, 45-50.
https://doi.org/10.2478/v10034-011-0017-0

has been cited by the following article:

• TITLE: Laboratory Indicators and Some Considerations in Albanian Patients with Beta Thalassemia Major and Sickle Cell Disease

  AUTHORS: Manika Kreka, Eleni Nastas, Etleva Refatllari, Alma Idrizi, Vjollca Shpata, Bledi Kreka, Anila Godo

  KEYWORDS: TM—Thalassemia Major, TI—Thalassemia Intermedia, SCD—Sickle Cell Disease, TSCD—Thalassemia-Sickle Cell Disease, LDH—Lactate Dehydrogenases, Ca 15-3-Tumor Marker, IB—Indirect Bilirubin, PRBC—Pure Red Blood Cells, Apoptosis-Programmed Death of the Cell

  JOURNAL NAME: Journal of Biosciences and Medicines, Vol.10 No.1, January 26, 2022

  ABSTRACT: Haemoglobinopathies are very serious clinical conditions caused by genetic mutations. They belong to autosomal recessive disorders and the most frequent genetic inherited diseases seen, specifically and above all among Mediterranean countries. Thalassaemia syndromes (included Beta Thalassaemia and Sickle Cell Disease) have been the first diagnosed diseases since in intrauterine life using reccombinant DNA techniques. So, the better understanding of their pathophysiology has given a spectacolar improvement and a considerable impact on these conditional managements. Every year there are nearly 300,000 children born with haemoglobinopathies globally, and there are 60,000 - 70,000 children with Beta Thalassemia among them. Nowadays in Albania like everywhere, there is a significant increase of survival in these patients. As a result of life longevity and improvement of patients life quality, we can see that these patients may suffer from other concomitant illnesses. In our country, there are registered approximately 500 patients with haemoglobinopathies. We studied 50 pediatric patients at random ranging from age 2 until 18 years old. We excluded other pathologies among them. We found high values of biochemical indicators in blood (Ca 15-3 was found elevated in 75% of our patients, Lactate Dehydrogenases was found elevated in 70% of cases, Indirect Bilirubin was found elevated in 66% of cases). All three parameters are indicators of hemolysis. We found a correlation between high values of Ca 15-3 marker and high levels of LDH, Indirect Bilirubin and low level of hemoglobin (p