RESUMO
Using clinical, functional and biochemical criteria, we studied the red blood cell membrane of nine caucasic patients from four families with hereditary elliptocytosis (HE). From a clinical point of view, seven cases were classified as compensated mild HE in whom anemia and splenomegaly are absent and reticulocytosis is slightly elevated or normal. Two cases were uncompensated mild HE with anemia, reticulocytosis, splenomegaly and erythrocytic fragmentation. (Table 1). Three individuals from one family displayed a significant reduction of protein 4.1 by polyacrylamide gel electrophoresis; one of them was uncompensated HE. The patterns of limited tryptic digestion and dimer/tetramer proportion of spectrin were normal. The study of red cell deformability by ectacytometry revealed that the cell deformability under isotonic conditions was decreased in all HE patients and the curve obtained had trapezoidal shape (Fig. 3). We found that the deformability index correlated well with the degree of anemia, but no correlation was observed between clinical findings, morphological phenotype and specific molecular etiology. According to our knowledge, this is the first report on molecular and functional studies in HE in Argentina.
Assuntos
Proteínas do Citoesqueleto , Eliptocitose Hereditária/sangue , Deformação Eritrocítica , Proteínas de Membrana/deficiência , Neuropeptídeos , Adulto , Idoso , Criança , Pré-Escolar , Eletroforese em Gel de Poliacrilamida , Membrana Eritrocítica/metabolismo , Família , Feminino , Citometria de Fluxo , Humanos , Masculino , Espectrina/biossínteseRESUMO
Using clinical, functional and biochemical criteria, we studied the red blood cell membrane of nine caucasic patients from four families with hereditary elliptocytosis (HE). From a clinical point of view, seven cases were classified as compensated mild HE in whom anemia and splenomegaly are absent and reticulocytosis is slightly elevated or normal. Two cases were uncompensated mild HE with anemia, reticulocytosis, splenomegaly and erythrocytic fragmentation. (Table 1). Three individuals from one family displayed a significant reduction of protein 4.1 by polyacrylamide gel electrophoresis; one of them was uncompensated HE. The patterns of limited tryptic digestion and dimer/tetramer proportion of spectrin were normal. The study of red cell deformability by ectacytometry revealed that the cell deformability under isotonic conditions was decreased in all HE patients and the curve obtained had trapezoidal shape (Fig. 3). We found that the deformability index correlated well with the degree of anemia, but no correlation was observed between clinical findings, morphological phenotype and specific molecular etiology. According to our knowledge, this is the first report on molecular and functional studies in HE in Argentina.
RESUMO
Using clinical, functional and biochemical criteria, we studied the red blood cell membrane of nine caucasic patients from four families with hereditary elliptocytosis (HE). From a clinical point of view, seven cases were classified as compensated mild HE in whom anemia and splenomegaly are absent and reticulocytosis is slightly elevated or normal. Two cases were uncompensated mild HE with anemia, reticulocytosis, splenomegaly and erythrocytic fragmentation. (Table 1). Three individuals from one family displayed a significant reduction of protein 4.1 by polyacrylamide gel electrophoresis; one of them was uncompensated HE. The patterns of limited tryptic digestion and dimer/tetramer proportion of spectrin were normal. The study of red cell deformability by ectacytometry revealed that the cell deformability under isotonic conditions was decreased in all HE patients and the curve obtained had trapezoidal shape (Fig. 3). We found that the deformability index correlated well with the degree of anemia, but no correlation was observed between clinical findings, morphological phenotype and specific molecular etiology. According to our knowledge, this is the first report on molecular and functional studies in HE in Argentina.
RESUMO
Se estudiaron nueve pacientes (cuatro familias) con eliptocitosis herediataria (EH). Desde el punto de vista clínico, se identificaron dos tipos de presentación: siete pacientes fueron formas compensadas y dos (de 7 y 63 años) pertenecientes a distintas familias mostraron anemia, esplenomegalia, reticulocitosis y fragmentación globular. En una familia se comprobó una disminución del stock total de la proteína 4.1 en la electroforesis de proteína de membrana en gel de poliacrilamida con SDS (SDS-PAGE). Uno de sus miembros se comprobó como forma descompensada. El estudio de dímeros y tetrámeros y la digestión tríptica de espectrina fue normal en todos los casos. En la determinación de la deformabilidad en función de la osmoralidad con el ectacitómetro se halló una buena correlación entre el índice de deformabilidad (ID) y el grado de anemia. De acuerdo a los resultados de este estudio pudimos confirmar la gran heterogeneidad clínica de la EH aún en miembros de una misma familia (AU)
Assuntos
Humanos , Masculino , Feminino , Pré-Escolar , Criança , Adulto , Idoso , Eliptocitose Hereditária/genética , Deformação Eritrocítica/genética , Proteínas de Membrana/deficiência , Eliptocitose Hereditária/sangue , Membrana Eritrocítica/metabolismo , Espectrina/biossíntese , Citometria de FluxoRESUMO
Se estudiaron nueve pacientes (cuatro familias) con eliptocitosis herediataria (EH). Desde el punto de vista clínico, se identificaron dos tipos de presentación: siete pacientes fueron formas compensadas y dos (de 7 y 63 años) pertenecientes a distintas familias mostraron anemia, esplenomegalia, reticulocitosis y fragmentación globular. En una familia se comprobó una disminución del stock total de la proteína 4.1 en la electroforesis de proteína de membrana en gel de poliacrilamida con SDS (SDS-PAGE). Uno de sus miembros se comprobó como forma descompensada. El estudio de dímeros y tetrámeros y la digestión tríptica de espectrina fue normal en todos los casos. En la determinación de la deformabilidad en función de la osmoralidad con el ectacitómetro se halló una buena correlación entre el índice de deformabilidad (ID) y el grado de anemia. De acuerdo a los resultados de este estudio pudimos confirmar la gran heterogeneidad clínica de la EH aún en miembros de una misma familia
Assuntos
Humanos , Masculino , Feminino , Pré-Escolar , Criança , Adulto , Idoso , Deformação Eritrocítica/genética , Eliptocitose Hereditária/genética , Proteínas de Membrana/deficiência , Eliptocitose Hereditária/sangue , Citometria de Fluxo , Membrana Eritrocítica/metabolismo , Espectrina/biossínteseRESUMO
Se presentan los resultados de la actividad de la aldolasa, gliceraldehído-3 fosfato deshidrogenasa (GAPDH) y de la fosfofructokinasa (PKG) en membranas de drepanocitos. Se encontró una disminución de un 45 de la actividad de la GAPDH en drepanocitos irreversibles. Se plantea como una explicación probable, la competencia entre la GAPDH y la Hb S para el mismo sitio de fijación en la banda 3 de las membranas de las DI (AU)