نتایج جستجو برای: hb e mutation

تعداد نتایج: 1303862  

Journal: :The Malaysian journal of pathology 2017
H S Amran M A Aziz E George N Mahmud T Y Lee S Md Noor

Hb Tak is one of more than 200 high affinity haemoglobin variants reported worldwide. It results from the insertion of two nucleotides (AC) at the termination codon, between codon 146 and codon 147 of the beta-globin gene [Beta 147 (+AC)]. Polycythaemia is the main clinical feature although affected carriers are usually asymptomatic and do not require intervention. Several case studies in this ...

Journal: :Physical chemistry chemical physics : PCCP 2014
Jure Gujt Črtomir Podlipnik Marija Bešter-Rogač Eckhard Spohr

The relative position of the hydroxylic and the carboxylic group in the isomeric hydroxybenzoate (HB) anions is known to have a large impact on transport properties of this species. It also influences crucially the self-organisation of cationic surfactants. In this article a systematic investigation of aqueous solutions of the ortho, meta, and para isomers of the HB anion is presented. Molecula...

Journal: :Medicina clinica 2015
Félix de la Fuente-Gonzalo Jorge Martínez Nieto María José Torrejón Luis Antonio Mayor Diego Velasco Fernando Ataulfo González Fernández Paloma Ropero Gradilla

BACKGROUND AND OBJECTIVE The glycated hemoglobin (HbA1c) test by high performance liquid chromatography is a useful tool for the follow-up of diabetes mellitus patients. Some structural hemoglobin (Hb) variants are known to cause interference in the analytical measurement of HbA1c. PATIENTS AND METHODS In this study, it has been characterized a new Hb variant in 4 patients during their regula...

اکرمی پور, رضا, خالقی, سمیه, علی بخشی, رضا, بیدکی, سید کاظم ,

  Background: Alpha thalassemia is a single gene disorder, inherited in an autosomal recessive manner. The thalassemia occurs mostly in peoples from the Mediterranean to Southeast Asia. The present study was aimed to identify the prevalence of nondeletional Alpha thalassemia mutations in our samples in the Kermanshah province.   Methods : This study included Alpha thalassemia individuals who ha...

2015
Aline Cristina Peluccio Martins Gisele Sampaio Silva Samuel Ademola Adegoke Daniela Laranja Gomes Rodrigues Josefina Aparecida Pellegrini Braga Maria Stella Figueiredo

Sickle cell anemia (SCA) is a hereditary hemoglobinopathy caused by homozygosity for sickle hemoglobin (Hb S). Hb S is caused by a single mutation in the -globin gene (HBB, glu6val) resulting in the presence of valine instead of glutamic acid in the sixth position of the -globin chain.1,2 Hb S can form polymers when deoxygenated leading to vaso-occlusion and tissue ischemia which may result in ...

2016
JI-CHENG TANTAI YAO ZHANG HENG ZHAO

The present study aimed to measure the effect of heterophyllin B (HB) on the adhesion and invasion of ECA-109 human esophageal carcinoma cells, and examine the possible mechanism involved. A Cell Counting kit 8 assay was performed to determine the cell viability. Cell adhesion and invasion were determined following treatment of the ECA-109 cells with HB (0, 10, 25 and 50 µM) for 24 h. The level...

2001
Toshio Asakura

A diluted solution of a mixture of Hb S and Hb A in concentrated phosphate buffer was found to aggregate with a clear demonstration of delay time. The mechanism of the participation of Hb A in the aggregation of deoxy Hb S in concentrated phosphate buffer has been investigated. Both the delay time and the aggregation time in the polymerization reaction of mixtures of Hb A and Hb S were prolonge...

2009
Hong-Rae Kim Yeon-Lim Suh Jong-Won Kim Jung-Il Lee

We report a very rare case of hemangioblastomatosis that developed after surgical removal of a solitary cerebellar hemangioblastoma (HB). A 51-yr-old man presented with back pain 10 yr after undergoing surgery for cerebellar HB. Magnetic resonance imaging showed numerous mass lesions along the entire neuraxis accompanied by prominent leptomeningeal enhancement. Genomic DNA analysis showed no mu...

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