Assuntos
Anemia Hemolítica Autoimune/complicações , Doença de Hashimoto/complicações , Hepatite Autoimune/complicações , Cirrose Hepática Biliar/complicações , Poliendocrinopatias Autoimunes/diagnóstico , Anemia Hemolítica Autoimune/diagnóstico , Anemia Hemolítica Autoimune/tratamento farmacológico , Anti-Inflamatórios/administração & dosagem , Budesonida/administração & dosagem , Feminino , Doença de Hashimoto/diagnóstico , Doença de Hashimoto/tratamento farmacológico , Hepatite Autoimune/diagnóstico , Hepatite Autoimune/tratamento farmacológico , Humanos , Cirrose Hepática Biliar/diagnóstico , Cirrose Hepática Biliar/tratamento farmacológico , Pessoa de Meia-Idade , Poliendocrinopatias Autoimunes/tratamento farmacológico , Síndrome , Ácido Ursodesoxicólico/administração & dosagemRESUMO
A Calabrian family (Southern Italy) with Sp alpha(I/74) hereditary elliptocytosis (HE) in the heterozygous state was studied. Sp alpha(I/74) HE is associated with asymptomatic elliptocytosis, a defect in spectrin dimer self association and an increase of the alpha(I/74) kD fragment from the alpha chain after partial tryptic digestion of spectrin. To identify the underlying molecular defect, we analysed exons V, W, X, Y, Z of the beta gene and exon 2 of the alpha gene by single-strand conformational polymorphism (SSCP) of the amplification products. Direct DNA sequencing of the mutant exon showed a C-->G substitution at position 6284 of the beta gene. The corresponding substitution at the protein level was Arg-->Pro in the 2064 position of the beta-spectrin chain.
Assuntos
Eliptocitose Hereditária/genética , Mutação Puntual , Espectrina/genética , DNA/análise , Membrana Eritrocítica/metabolismo , Eritrócitos/metabolismo , Feminino , Amplificação de Genes , Humanos , Masculino , Linhagem , Reação em Cadeia da Polimerase , Polimorfismo Conformacional de Fita SimplesRESUMO
A child of Italian origin with a congenital haemolytic anaemia had spectrophotometrically undetectable erythrocyte adenylate kinase (AK) activity. Her parents and brother had approximately 50% normal AK activity, and AK electrophoresis of red blood cell (RBC) crude extract on cellulose acetate strips showed the presence of the normal allele AK1-1. No AK band was detected in the AK electrophoresis of the proband, in whom the erythrocyte 2,3-diphosphoglycerate (2,3DPG) and glutathione (GSH) concentrations were normal whereas adenosine triphosphate (ATP) concentration, pyruvate kinase (PK) and glucose-6P-dehydrogenase (G6PD) activities were increased, reflecting the high reticulocyte count (6.9%). No other evident enzymatic defect was detected by standard procedures. Analysis of AK gene exons, based on polymerase chain reaction-single-strand conformational polymorphism (PCR-SSCP), clearly showed an abnormality in the fragment containing exon 6. The subsequent sequence analysis of this abnormal fragment revealed homozygous and heterozygous A-->G substitutions in the proband and in the parents and brother respectively at codon 164, corresponding to a tyrosine-->cysteine substitution in the AK protein.
Assuntos
Adenilato Quinase/deficiência , Anemia Hemolítica/genética , Eritrócitos/enzimologia , Mutação Puntual , Adenilato Quinase/genética , Substituição de Aminoácidos , Anemia Hemolítica/enzimologia , Criança , Eletroforese em Acetato de Celulose , Éxons , Feminino , Amplificação de Genes , Heterozigoto , Homozigoto , Humanos , Linhagem , Reação em Cadeia da Polimerase , Análise de Sequência de DNARESUMO
The alpha I/65 variant of spectrin has been described in black people, in North Africans and recently in two southern Italian families. This variant is associated in the heterozygous state with mild Hereditary Elliptocytosis (HE) and the molecular basis of the defect is invariably the duplication of TTG at codon 154 of the alpha spectrin gene. The present study reports the identification of five Calabrian families with SP alpha I/65 HE and their distribution in the population.
Assuntos
Eliptocitose Hereditária/genética , Espectrina/genética , Adulto , Idoso , Sequência de Bases , Análise Mutacional de DNA , Primers do DNA , Eletroforese em Gel de Poliacrilamida , Eliptocitose Hereditária/etnologia , Feminino , Humanos , Immunoblotting , Itália , Masculino , Pessoa de Meia-Idade , Dados de Sequência Molecular , LinhagemRESUMO
The authors examine 72 patients affected with homozygous B-thalassemia; The study was conducted by clinical-hematological and radiologic examination. The Singh method is used to compare clinical data with the degree of osteoporosis. The results indicate that there is a high frequency of osteoporotic abnormalities in thalassemia. The authors postulate that osteoporotic lesions are principally caused by hyperplasia of the marrow, the overactive bone marrow widening the medullary space and the increased intramedullary pressure causing osteoporosis.
Assuntos
Osteoporose/etiologia , Talassemia/complicações , Adolescente , Adulto , Transfusão de Sangue , Densidade Óssea , Doenças Ósseas Metabólicas/diagnóstico , Doenças Ósseas Metabólicas/diagnóstico por imagem , Doenças Ósseas Metabólicas/etiologia , Criança , Pré-Escolar , Feminino , Humanos , Lactente , Masculino , Osteoporose/diagnóstico , Osteoporose/diagnóstico por imagem , Radiografia , Talassemia/terapiaRESUMO
The authors clinically and radiographically examined 72 patients with homozygous beta thalassemia. The clinical data were compared to the degree of osteoporosis calculated by Singh's method. The results indicate a high incidence of skeletal changes in patients with thalassemia, including lower limb-length discrepancy (16.6%), upper limb-length discrepancy (5.5%), axial deviation of the limbs (8.3%), osteochondrosis (2.7%), and osteopenia (25%). Based on their observations, the authors identify skeletal changes of adulthood (osteopenia) and childhood (limb-length discrepancy, axial deviation, osteochondrosis). The authors hypothesize that osteoporotic changes are caused principally by hyperplasia of the bone marrow, which widens the medullary space and increases intramedullary pressure, leading eventually to osteoporosis.
