نتایج جستجو برای: hb e mutation

تعداد نتایج: 1303862  

Journal: :Clinical and diagnostic laboratory immunology 1999
Y M Yoo K M Kim S S Kim J A Han H Z Lea Y M Kim

Hemoglobin (Hb) is a toxic molecule responsible for the extreme lethality associated with experimental Escherichia coli peritonitis, but the mechanism has yet to be elucidated. Hb, but not globin, showed toxic effects in a live E. coli model but not in a model using killed E. coli. Methemoglobin, hematin, and the well-known Fenton reagents iron and iron-EDTA demonstrated the same lethal effect ...

2001
Zhenning He Eric Russell

Embryonic zand e-globin subunits assemble with each other and with adult aand b-globin subunits into hemoglobin heterotetramers in both primitive and definitive erythrocytes. The properties of these hemoglobins—Hbs Gower-1 (z2e2), Gower-2 (a2e2), and Portland-2 (z2b2)— have been incompletely described as they are difficult to obtain in quantity from either primary human tissue or conventional e...

2017
Gilberto Andrade Tavares José Augusto Soares Barreto-Filho

Potential of Family Health Strategy Against Cardiovascular Disease Gilberto Andrade Tavares1 and José Augusto Soares Barreto-Filho2,3,4 Núcleo de Pós-Graduação em Ciências da Saúde da Universidade Federal de Sergipe (UFS),1 São Cristóvão, SE; Núcleo de Pós-Graduação em Medicina Universidade Federal de Sergipe;2 Divisão de Cardiologia Hospital Universitário;3 Clínica e Hospital São Lucas,4 Araca...

2001
Zhenning He Eric Russell

Embryonic zand e-globin subunits assemble with each other and with adult aand b-globin subunits into hemoglobin heterotetramers in both primitive and definitive erythrocytes. The properties of these hemoglobins—Hbs Gower-1 (z2e2), Gower-2 (a2e2), and Portland-2 (z2b2)— have been incompletely described as they are difficult to obtain in quantity from either primary human tissue or conventional e...

Journal: :Blood 1983
C M Smith B Hedlund J A Cich D P Tukey M Olson M H Steinberg J G Adams

Hemoglobin (Hb) North Shore (beta 134 val leads to glu) is a mutant hemoglobin that is associated with the phenotype of mild heterozygous beta-thalassemia. Heterozygotes are characterized low normal hemoglobin levels or mild anemia, microcytosis, increased HbA2, and 34%-38% Hb North Shore. The mechanism of the anemia and microcytosis associated with Hb North Shore was explored by studies of hem...

Journal: :Medicina clinica 2015
Félix de la Fuente-Gonzalo Paloma Ropero Jorge Martínez-Nieto Ana Villegas Fernando A González Joaquín Díaz-Mediavilla

BACKGROUND AND OBJECTIVE Thalassemias are the most frequent monogenic disorder around the world. α-thalassemias are due to a deficiency of synthesis in the alpha-globin chain of the hemoglobin (Hb). Hb Groene Hart is a hyperunstable variant. In this work, we have studied 24 cases affected by Hb Groene Hart, one of them associated with Hb J-Paris-I. PATIENTS AND METHODS Twenty-four patients fr...

2007
Rahim Fakher Kaeikhaei Bijan Akbari Mohammad Taghi

BACKGROUND The hemoglobinopathies refer to a diverse group of inherited disorders characterized by a reduced synthesis of one or more globin chains (thalassemias) or the synthesis of structurally abnormal hemoglobin (Hb). The thalassemias often coexist with a variety of structural Hb variants giving rise to complex genotypes and an extremely wide spectrum of clinical and hematological phenotype...

Journal: :Blood 2004
Vip Viprakasit Voravarn S Tanphaichitr Worrawut Chinchang Pakarat Sangkla Mitchell J Weiss Douglas R Higgs

Although beta thalassemia is considered to be a classic monogenic disease, it is clear that there is considerable clinical variability between patients who inherit identical beta globin gene mutations, suggesting that there may be a variety of genetic determinants influencing different clinical phenotypes. It has been suggested that variations in the structure or amounts of a highly expressed r...

Journal: :Genetics 1994
F Pelegri R Lehmann

Anteroposterior polarity of the Drosophila embryo is initiated by the localized activities of the maternal genes, bicoid and nanos, which establish a gradient of the hunchback (hb) morphogen. nanos determines the distribution of the maternal Hb protein by regulating its translation. To identify further components of this pathway we isolated suppressors of nanos. In the absence of nanos high lev...

2012
Paulo Cesar Naoum

DOI: 10.5581/1516-8484.20120003 All pigments of hemoglobin (oxyhemoglobin, methemoglobin, sulphemoglobin and carboxyhemoglobin) are of clinical importance and each has a laboratorial characteristic in the absorption spectrum. Methemoglobin, in which the ferrous iron atom of the heme group has been oxidized to a ferric iron atom, is unable to carry molecular oxygen. Various red cell enzymes conv...

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