Assuntos
Mutação , Porfiria Eritropoética/diagnóstico , Porfiria Eritropoética/genética , Uroporfirinogênio III Sintetase/genética , Transplante de Medula Óssea , Análise Mutacional de DNA , Feminino , Hepatomegalia , Humanos , Lactente , Fenótipo , Porfiria Eritropoética/terapia , Esplenomegalia , Tailândia , Transplante Homólogo , Resultado do TratamentoRESUMO
In this report, we describe two Thai siblings presenting with mild hypochromic microcytic anaemia and splenomegaly since 2(1/2) years of age. However, both patients were otherwise well with normal weight and height development and did not require transfusion during the 6-year follow-up period. Haematological and haemoglobin analyses were consistent with the clinical diagnosis of Hb E/beta-thalassaemia disease. To provide proper genetic counselling for this family, a definitive diagnosis of beta-thalassaemia was achieved using molecular analysis. We identified a rare initiation codon mutation (ATG-->AGG) of the beta-globin gene in combination with the Hb E mutation (codon 26: GAG-->AAG). The initiation codon mutation has previously been reported in several East Asian populations but has never been found in Southeast Asia and in combination with Hb E before. The haplotype analysis revealed a common origin of this mutation in the Asian population (5': - + - + + - +: 3', type IV with framework 3 according to Orkin S, et al.). Although this rare mutation abolished the beta-globin expression and was considered as beta(0)-thalassaemia, the relatively mild phenotype in our patients may be attributed to a strong association between this mutation and the -158 (G)gamma (C-->T) polymorphism, an XmnI cleavage site (+), resulting in a high propensity of postnatal gamma-globin expression and ameliorating the clinical phenotypes.
Assuntos
Códon de Iniciação/genética , Globinas/genética , Mutação Puntual , Anemia Hipocrômica/genética , Povo Asiático/genética , Criança , Saúde da Família , Haplótipos , Hemoglobina E/genética , Humanos , Masculino , Família Multigênica/genética , Linhagem , Tailândia , Talassemia beta/diagnósticoRESUMO
Forty kinds of commercial fruit juices sold in Thailand were analyzed for types and contents of carbohydrates, electrolytes as well as osmolarity and pH. Each juice was analyzed three times and the results were averaged. A few kinds of fruit juices have high sorbitol contents (> 10 g/L). There are some juices which have a high fructose to glucose ratio (> 1.5:1). Sodium contents in juices ranged from 19 to 1405 mg/L. The osmolarity of the juices ranged from 500 to 1200 mOsmol/L. Most juices have acid pH which ranged between 2.8 and 5.0. It is concluded that each fruit juice has a unique set of properties. Consumers should know the properties of each juice because chronic intake and large amount intake of the juice could have detrimental effects on the health of the consumer.