نتایج جستجو برای: hb e mutation

تعداد نتایج: 1303862  

2009
H. BelHadjAli A. Ben Amor Hichem BelHadjAli Ali Ben Amor Johannes F. Brasche

Let E and P be nonnegative quadratic forms in a Hilbert space H and assume that E + bP is densely defined and closed for every b ≥ 0. For every b > 0 let Hb be the self-adjoint operator associated with E + bP in the sense of Kato’s representation theorem. By Kato’s monotone convergence theorem, the operators (Hb + 1) −1 converge strongly to an operator L, as b tends to infinity. Let k ∈ N. We g...

Journal: :Proceedings of the National Academy of Sciences of the United States of America 1985
K Nagai M F Perutz C Poyart

Human beta-globin was synthesized in Escherichia coli as a cleavable fusion protein, using the expression vector pLcIIFX beta-globin [Nagai, K. & Thøgersen, H. C. (1984) Nature (London) 309, 810-812]. The fusion protein cIIFX beta-globin was purified to homogeneity and cleaved at the junction by blood coagulation factor Xa; the authentic beta-globin was liberated. Beta-globin was folded in vitr...

Journal: :Investigacion clinica 2010
Irene Paradisi Neida González Alba Hernández Sergio Arias

Hemoglobin City of Hope (Hb CH) (HBB: c.208G>A, beta 69 (E13)Gly>Ser) is a rare, anomalous change. Seven independent carriers reported so far, had not displayed any hematological manifestations. The ethnic origin of the known instances is presumably heterogeneous, although they are mainly Mediterraneans or equatorial West Africans. We describe the case of a compound heterozygote in trans for Hb...

2014
Yu-Hua Chao Kang-Hsi Wu Han-Ping Wu Su-Ching Liu Ching-Tien Peng Maw-Sheng Lee

Thalassemia is highly prevalent in Taiwan, but limited data are available about the association between genotypes and clinical manifestations in Taiwanese patients with Hb H disease. Here, we studied α-globin gene abnormalities and clinical features in Taiwanese patients with Hb H disease. Of the 90 patients, sixty-four (71.1%) were deletional and twenty-six (28.9%) were nondeletional Hb H dise...

Journal: :The American journal of clinical nutrition 2005
Rosanne A Thurlow Pattanee Winichagoon Timothy Green Emorn Wasantwisut Tippawan Pongcharoen Karl B Bailey Rosalind S Gibson

BACKGROUND Iron deficiency is assumed to be the major cause of anemia in northeast Thailand, but other factors may be involved. OBJECTIVE We determined the prevalence of anemia among schoolchildren in northeast Thailand and the role of hemoglobinopathies, selected micronutrient deficiencies, and other factors in hemoglobin status. DESIGN Blood samples were collected from 567 children aged 6...

Journal: :Journal of medicine 2023

Background: Inherited Haemoglobin (Hb) disorders are the most frequent genetic hereditary with an increasing global health burden, especially in low- and middle-income countries. This disorder is mostly caused by a point mutation on globin gene resulting single amino acid substitutions consequently defective chain production or reduced of normal haemoglobin. Despite limited study this country r...

Journal: :Journal of the Medical Association of Thailand = Chotmaihet thangphaet 2008
Sorasak Intorasoot Rachanu Thongpung Khajornsak Tragoolpua Mongkol Chottayaporn

OBJECTIVES To develop and apply the polymerase chain reaction with confronting two-pair primers (PCR-CTPP) for detection and identification of hemoglobin E (Hb E). MATERIAL AND METHOD Fifty unrelated northern Thais were included in the present study. DNA was extracted from peripheral blood mononuclear cells and targeted to amplify by PCR-CTPP. The amplified product was analyzed and compared w...

Journal: :Clinical chemistry 2008
Peter Kleinert Marlis Schmid Karin Zurbriggen Oliver Speer Markus Schmugge Bernd Roschitzki Silke S Durka Urs Leopold Thomas Kuster Claus W Heizmann Hannes Frischknecht Heinz Troxler

BACKGROUND More than 900 hemoglobin (Hb) variants are currently known. Common techniques used in Hb analysis are electrophoretic and chromatographic assays. In our laboratory, we routinely apply chromatographic methods. To ascertain whether Hb variants are missed with our procedures, we additionally analyzed all samples with mass spectrometry (MS). METHODS Database evaluation was performed us...

Journal: :Clinical chemistry 1997
N Mario B Baudin C Aussel J Giboudeau

We have developed two assays for complete analysis of hemoglobins (Hbs) in the field of hemoglobinopathies: a high-performance cation-exchange liquid chromatography (HPLC) assay on the weak cation-exchanger Poly Cat A and a two-step capillary isoelectric focusing (CIEF) assay on the neutral-coated capillary from Beckman in a narrow pH gradient. The resolution was satisfactory for both HPLC and ...

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