RESUMO
Research objective is to study the efficacy of recombinant erythropoietin (epoetin alfa) as alternative method of treatment beta-thalassemia intermedia. Study involved 58 patients with beta-thalassemia intermedia (23 women and 35 men). In all observed patients was defined levels of hemoglobin (Hb), red blood cells (RBC), erythrocyte indexes (MCV, MCH, MCHC), hemoglobin fractions (HbA, HbA2, HbF), serum ferritin, serum erythropoietin before and after administrated rEPO. All patients received rEPO during 6 month at the dose - 10000 IU subcutaneously. The majority of patients - 39 (67%) had a good response to rEPO (increase in hemoglobin level more than 20 g/l); 16 patients (28%) had a mean response (increase in Hb 10 - 20 g/l); in 3 (5%) patients occurred poor response to rEPO therapy (increase in Hb <10 g/l). After rEPO treatment of beta-thalassemia intermedia patients there was a statistically significant change in the number of RBC, levels of HbF and sEPO. The evaluation of interdependence between the indices of the baseline sEPO and increased Hb values in patients after rEPO treatment revealed the presence of the reverse direct relationship (r=-0.67). Based on the results, it can be concluded that the use of rEPO in complex therapy of beta-thalassemia intermedia leads to increased levels of Hb and consequently reducing the need for blood transfusions, and accordingly expected to prevent severe complications of blood transfusion (alloimmunization, hypersplenism, iron overload, contamination transmissible infections) facilitating normal growth and development, and a better quality of life.
Assuntos
Epoetina alfa/uso terapêutico , Hematínicos/uso terapêutico , Talassemia beta/tratamento farmacológico , Adolescente , Adulto , Estudos de Casos e Controles , Criança , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Resultado do Tratamento , Adulto Jovem , Talassemia beta/sangueRESUMO
The aim of this study was to investigate the phenotypic expression of the most common ß-globin gene mutations - Codon 8 (-AA), IVS 1.6 and IVS 2.1 in heterozygous, homozygous and compound with HbS in Azerbaijan. In total, 137 homozygous and heterozygous ß-thalassemia and S/ß-thalassemia individuals were included to the study. Red blood cell count, hemoglobin, hematocrit and erythrocyte indices were studied. Furthermore, hemoglobin fractions were analyzed by electrophoresis on cellulose acetate films and high performance liquid chromatography. Thalassemic mutation were detected using reverse hybridization method via commercial kits. Increased red blood cell count, decreased erythrocyte indices and high HbA2 was observed in heterozygous individuals causing thalassemia minor. The results obtained during the screening of mutations and analysis of hematological parameters clearly showed that the phenotypic expression of homozygous mutations, on the other hand, varies between different mutations.
Assuntos
Talassemia/genética , Globinas beta/genética , Adolescente , Adulto , Criança , Pré-Escolar , Contagem de Eritrócitos , Índices de Eritrócitos , Feminino , Hematócrito , Hemoglobinas/análise , Heterozigoto , Homozigoto , Humanos , Lactente , Masculino , Mutação , Fenótipo , Talassemia/sangue , Adulto JovemRESUMO
Alpha-thalassemia is widely spread in human population and one of the most common types of α-thalassemia is hemoglobinopathy H which develops with mild microcytic hypochromic anemia, hepatosplenomegaly and jaundice. The basic method of anemia correction is blood transfusion. However this method has crucial deficiencies. As it is known recombinant erythropoetin (rEPO) contributes to erythroid proliferation and could be used for anemia treatment. The aim of the study was to qualify efficiency of administration rEPO in complex therapy of hemaglobinopathy H. Study involved irregularly transfused 14 patients with hemoglobinopathy H (2 males and 12 females). Control group included 30 healthy persons. Recombinant erythropoietin (Eprex) administrated hypodermically 10,000 units 3 times a week during 6 months. Average hemoglobin level before treatment was 62 g/l. Responses to the rEPO treatment varied from 9 to 70 g/l, 9 (64%) of patients had a good response, showed an increase in hemoglobin level more than 20 g/l. In 4 patients (29%) had a moderate response (10-20 g/l), but only in 1 (7%) patient occurred poor response. Changing the parameters of erithrocyte indices, hemoglobin fractions, serum iron and serum ferritin level are not statistically significant. It can be concluded that the use of rEPO in complex therapy of hemaglobinopathy H, leads to increased levels of hemoglobin and consequently reducing the need for blood transfusions.