Nineteen years study of beta-thalassaemia in Slovakia.

BACKGROUND: Beta-thalassaemia is a congenital disorder caused by point mutations in a haemoglobin beta-globin chain. The heterozygous form produces microcytosis and normal iron levels, however, haemoglobin electrophoresis shows elevated amounts of haemoglobin A2 and eventually foetal haemoglobin F as well. METHODS: Between 2005-2011, in three centres in Slovakia, carriers of beta-thalassaemic genes or other haemoglobinopathies were searched for. Diagnosis was performed by haematologists whereby the family history was evaluated, together with the overall clinical condition, blood count and blood smear, iron parameters, haemolysis and haemoglobin electrophoresis testing. A proportion of patients was examined by molecular genetic methods. RESULTS: A clinical suspicion of the heterozygous form of beta-thalassaemia was documented in 402 patients (21.9%) out of a total of 1,834 examinations. From these patients, 87 underwent molecular genetic testing and mutations of beta globin genes were identified in 70 of them, where the most frequent mutations were IVS 2.1 (28.5%), IVS 1.110 (25.6%) and IVS 1.1 (11.3%). Evidence of haemoglobin S (sickle cell anaemia) was also notable in one case (patient of African origin). Unusually high levels of haemoglobin F (6-21%) were found in 23 adult subjects. CONCLUSION: The study showed that there is a higher number of heterozygotes for beta-thalassaemia and rarely haemoglobinopathies. It is necessary to continue in search of pathological gene carriers in Slovakia.

Disturbances of coagulation in neonates with functionally univentricular physiology prior to the first stage of surgical reconstruction.

BACKGROUND: Altered levels of coagulation factors are reported in patients with functionally univentricular physiology before and following the second and third stages of reconstructive surgery. The aims of our study were to determine if such abnormalities are also present in newborns with this physiology prior to the first stage of surgical treatment. PATIENTS AND METHODS: We studied 20 neonates with functionally univentricular physiology admitted to the Children's Cardiac Centre in Slovakia, using 20 healthy neonates as age-matched controls. Demographic characteristics, and concentration of liver enzymes, serum albumin, and complete blood count, did not differ between the two groups. Concentrations of Factor II, V, VII, VIII, Protein C, Protein S and Antithrombin were compared between the groups, and assessed as variable factors for coagulation. RESULTS: In those with functionally univentricular physiology, procoagulation Factor II (p < 0.001), VII (p < 0.001), VIII (p < 0.01), anticoagulation Protein C (p < 0.001), Protein S (p < 0.001) and Antitrombin III (p < 0.001) all were present in significantly lower values compared with findings in the control group. D-dimer (p < 0.0001) and Fibrin Degradation Products (p < 0.0001) were present at significantly higher levels, but the concentration of plasminogen was significantly lower (p < 0.0001). The activated partial thromboplastin time (p < 0.012), and the prothrombin time (p < 0.0001), was significantly prolonged in those with functionally univentricular physiology compared with their controls. CONCLUSION: The presence of abnormal coagulation factors, markers of thrombolysis in the plasma, and increased risk of bleeding, suggests activation of haemostasis, and consumption of factors responsible for coagulation, in those with functionally univentricular physiology. The question arises whether the reported abnormalities are predictive of the known abnormalities of coagulation occurring during the second and third stages of surgical repair for patients with functionally univentricular hearts.