[CONGENITAL DEFICIENCY OF COAGULATION FACTOR V].

The study was designed to investigate the 5 year old girl with rare bleeding disorder -deficiency of coagulation factor V. The diagnosis was based on detail family history, physical examination and para-clinical data analyses. The age of patient, purpura, this has been detected from early age, positive family history, non-controlled, longtime bleeding, inadequate trauma of the tongue, which did not resolve after surgery, strong hypocoagulation, which was slightly improved, after several plasma transfusions. This allowed us to suggest the existence of the congenital coagulopathy, which was confirmed by the investigation of coagulation factors - particularly the deficiency of factor V was detected.

[Erythrocyte membrane abnormalities - hereditary elliptocytosis].

This study was designed to investigate the 4 year old boy with Hereditary Elliptocitosis (HE). The diagnosis of this rare hemolytic anemia was based on detailed family history (positive in the 4-th generation), physical examination and Para-clinical data analyses. The vast majority of patients with HE are asymptomatic, severe forms are rare. The most important is examination of blood films, which is helpful to detect the morphology abnormalities of red cells. In case of HE a different approach is required. Positive family history and series of investigations should be conducted to determine the HE.

[The pure red cell aplasia in children (observation 2010-2012 years)].

This study was designed to investigate the children with congenital (Diamond-Blackfan Anaemia - DBA) and acquired pure red cell aplasia (PRCA). 4 children, aged 1 month to 3 years with PRCA were enrolled in a trial. Investigations include: detailed history and physical examination, complete blood count with red blood cell indices, reticulocyte count, bone marrow examination, iron metabolism, viral serologies, immunological and urine analysis, anti-erythrocyte antibodies, measurement of hemoglobin F and erythrocyte adenosinedezaminase activity, chest x-ray, liver and renal function tests. Based on clinical and para-clinical data analyses and catamnestic observations two cases were diagnosed with DBA and other two with acquired PRCA among which one was determined by EBV virus and another by transient erythroblastopenia. Nowadays 3 children with PRCA are asymptomatic. In case of PRCA (because of its rare occurrence) a differentiated approach is required to every specific occasion. A series of investigations should be conducted to determine the origin and choose the treatment principles accordingly.

[Neutropenia in children].

Neutropenia in children is defined as decrease in absolute number of neutrophils to 1x 10(9)/l. This condition is common, its course is mild and usually transient, though persistent, severe, chronic forms also encounter in clinical practice. In such cases the prognosis is not always favorable. Causes of neutropenia could not always be identified. In the most cases it is caused by infection (bacterial, viral, etc), consumption of drugs, nutrient deficiency and others. There are also hereditary and congenital forms. Neutropenia in childhood is mostly met during the first 24 months of life and has specific clinical manifestations; therefore it is challenging to make a diagnosis. The presented work describes findings of observation over three pediatric patients, in whom persistent, severe neutropenia was manifested up to one year of age. Based on case history, clinical and para-clinical data analysis and catamnestic observation benign chronic neutropenia was diagnosed in two cases and primary autoimmune neutropenia - in one. The observation is in progress.

[Childhood idiopathic thrombocytopenic purpura (the results of 20-year experience)].

Idiopathic thrombocytopenic purpura (ITP) of Childhood is a common hemorrhagic diathesis. The purpose of the present work is to summarize the results of 20-year observation over children suffering ITP, to record certain progress in diagnosing and treatment of this disease and to raise the problems still to be solved. The authors have been observing 181 ITP patients (girls 89, boys 92) at the age of 3 months up to 15 years. Childhood ITP mostly occurs at the age of 1 to 6 year i.e. in the so called "critical period" of immune system forming. Several peculiar cases were identified among infants and the children above 10 years old. Clinical manifestation of all the ITP patients was characterized with cutaneous hemorrhagic syndrome. 95% of childhood cases showed deep thrombocytopenia with the thrombocyte level <30X10 9/l. Most of the patients suffered acute form of ITP (87,9%). In the majority of cases illness took its normal predictable course after the glucocorticosteroid therapy. In heavy cases the combination of glucocorticosteroid and intravenous immunoglobulin is recommended. The indications of splenectomy were considered to be heavy, life -threatening, excessive bleeding, mainly in cases of chronic, steadily recurrent forms of ITP. Remissions were achieved in most of cases.

[Megaloblastic-vitamin B12 deficiency anemia in childhood].

Megaloblastic anemias are basically caused by vitamin B(12) and/or folic acid deficiency. Childhood vitamin B(12) deficiency is extremely rare. There are congenital and acquired forms of vitamin B(12)-deficiency anemias. The article captures findings of 10 year observation of 3 patients with Imerslund-Gräsbeck Syndrome (congenital chronic megaloblastic anemia with proteinuria), in which the diagnosis was established by us in early childhood and due to correct treatment and prevention complete clinical-laboratory remission is kept so far. We have also observed rare case of acquired megaloblastic anemia - 14 years old vegetarian patient, who was diagnosed with vitamin B(12)-deficiency anemia based on history, clinical and para-clinical data. It was caused by strict vegetarianism of the patient. Therefore first of all the diet was corrected. In 5 days of specific treatment with vitamin B(12) "reticulocyte crisis" was manifested (proving the correctness of diagnosis and treatment) and complete clinical-hematological remission was achieved in 2 weeks. The given cases are interesting as megaloblastic anemias in childhood are both rare and difficult to diagnose. In such cases timely diagnosis, treatment and prevention tactics should be based on cause-and-effect relation of disease.

[Autoimmune haemolytic anaemia - as a mask of acute erythroleukaemia].

Erythroleukaemia (DI Guglielmo Desease) is a rare form of acute myeloid leukaemia. This pathology is extremely difficult to be diagnosed on the early stage. Acute erythroleukaemia may make its debut under the mask of haemolytic anaemia and can be acceptably suspected only after emergence of malignant cells in peripheral blood. In the paper is presented a case of 13 years old girl, who on the basis of anamnesis, clinical, and paraclinical data was diagnosed as having Autoimmune Haemolytic Anemia. As a result of prednisolone therapy full clinical and partial laboratory remission was achieved. A week later after stopping the treatment the patient was repeatedly hospitalized in very a bad condition, with blast cells in the peripheral blood (80% in bone marrow). According to morphological, cytochemical, immunological tests and cytogenetic analysis she was diagnosed as having Acute Erythroleukaemia.

Hematologic response to hydroxyurea therapy in children with beta-thalassemia major.

beta-thalassemia major is the most common monogenic hereditary blood disease in children. beta+-thalassemia major gene frequency in Georgia averages 0,019 (3,79% gene carriers). Hydroxyurea (HU) has been known to cause induction of fetal hemoglobin (HbF), but the efficacy of this treatment in beta-thalassemia patients is still unclear. This study was undertaken to evaluate the clinical and hematologic responses in patients with beta+-thalassemia to treatment with HU during 5 years in Georgia. Six children, aged 8 years to 13 years with transfusion-dependent beta+-thalassemia phenotype were enrolled in a trial to assess the response to HU therapy. Hemoglobin, reticulocyte count, HbF and ferritin were evaluated. The starting dose of HU was 5 mg/kg per day (5 days week) given orally once a day. Response to therapy was evaluated at 1, 2, and 5 years of treatment. Clinical improvement and rise in the HbF levels was observed in all patients. We report three cases of a remarkable response to treatment with HU in which the red cell transfusion was stopped after 1 year of treatment, and the patients became completely transfusion-free for more than 5 years. A moderate response was seen in two patients, who remained transfusion-dependent, but at longer intervals. There was no serious complication of treatment with HU. Long-term HU therapy may correct the anemia and can eliminate or minimize the transfusional needs in children with beta+-thalassemia major in cases, when the patient's baseline HbF level is > or =15% and its increase during the treatment is up to 20%.

[Damage of iron metabolism and oxidoreduction process in children with beta-thalassemia].

beta-thalassemia is the most common monogenic hereditary blood disease in children. It is also considered to be the regional pathology for Georgia. The influence of iron metabolism disorder on metabolic processes taking place in erythrocyte membrane and their role in pathogenesis of beta-thalassemia, is very important until now. The aim of our research was to study the condition of oxidoreduction processes in RBC membranes on the background of iron metabolism disorder in children with beta-thalassemia. We observed 44 patients with beta-thalassemia aged 0.4-14 years. Iron, ferritin, malon-dialdehyde and catalase were evaluated. The carried out investigation revealed, that oxidoreduction processes in patients with beta-thalassemia, together with iron overload, is one of the factors in promoting further disorder of proliferation and differentiation processes in erythrone system and also in formation of ineffective erythropoiesis. The revealed changes in data of iron metabolism. malon-dialdehyde and catalase showed us the need for correction of this disorder. Pathogenetically there are good reasons to include in the combined treatment beta-thalassemia the membrano-protective preparations (vitamin E, acetylcysteine) together with the hemotransfusion and chelator therapy.

[The role of oxidative metabolism in pathogenesis of hyperbilirubinemia in infants].

The aim of the study was the investigation of free radical oxidation intensity in blood of newborn infants with hyperbilirubinemia. In infants blood the bilirubin, free nitric oxide, lipoperoxide radicals Fe(2+)-ions, methemoglobin, oxy- and desoxy hemoglobin content, erythrocytes deformability and resistance were studied. Results of the study testify the intensive generation of free nitric oxide, release of ferritin-free ferrous (Fe(2+)), intensification of lipoperoxidation, decrease of red blood cells resistance, and accumulation of methemoglobin in blood of newborn infants with hyperbilirubinemia. The low content of nitric oxide in blood is due to its oxidative transformation to peroxynitrite. NOO(-)-inducible hemolysis of erythrocytes is one of promoters of hyperbilirubinemia in infants. It was concluded, that the reason of infants hyperbilirubinemia is intensification of oxidative stress, formation of excessive nitric oxide, enhancing of red blood cells haemolysis and it promotes disturbance of erythrocytes membrane, decrease of their resistance and deformability, intensification of haemolysis and extrication of redox-active iron.

[Efficacy of to'thema in the treatment of iron deficiency anemia in early childhood with concomitant copper deficiency].

IDA is still the major medico-social problem in pediatric hematology, especially in early childhood. In this correction ferroresistant forms of IDA are interesting. The aim of our investigation was: studying the Efficacy of Tot'hema in the treatment of Iron Deficiency Anemia in Early childhood with concomitant copper deficiency. We observed 42 patients with IDA (age 0,4 - 3 years) in open control investigation. The carried-out investigations revealed that IDA in early childhood is often proceeded by the concomitant copper deficiency and ceruloplasmin, mainly in premature infants and in children with prolonged diarrhea in anamnesis. In such cases it is important to investigate the copper metabolism together with the peripheral blood index and iron metabolism. Tot'hema improves hematologic and biochemical index, completely supplies iron and copper deficiency, prevents of iron resistant form of IDA. Tot'hema has no side effects.