نتایج جستجو برای: hb e mutation

تعداد نتایج: 1303862  

Journal: :Blood 1988
J G Gilman N Mishima X J Wen F Kutlar T H Huisman

In hereditary persistence of fetal hemoglobin, Hb F (alpha 2 gamma 2) is elevated after birth. Screening of sickle cell patients has revealed a family with elevated Hb F and high A gamma values. The propositus was a sickle cell patient with approximately 25% Hb F and 68.4% A gamma. He was heterozygous for the Benin (#19) and Mor beta S haplotypes. Five AS relatives with the Mor haplotype had 2....

Journal: :The Journal of clinical investigation 1972
M Aksoy S Erdem G D Efremov J B Wilson T H Huisman W A Schroeder J R Shelton J B Shelton O N Ulitin A Müftüoğlu

A presumably spontaneous mutation has resulted in the formation of Hemoglobin (Hb) Istanbul in which glutamine is substituted for histidine in the proximal position of the beta-chain (F8(92)). The anemia and other physiological effects that occur in the presence of Hb Istanbul were much ameliorated by splenectomy. Hb Istanbul is a relatively unstable molecule which produces a rather moderate ca...

Journal: :The Southeast Asian journal of tropical medicine and public health 2007
H Rosline T M Roshan S A Ahmed I Ilunihayati

Thalassemia is a common public health problem among Malays. Hemoglobin C (Hb C) is a hemoglobin beta variant resulting from a single base mutation at the 6th position of the beta-globin gene leading to the substitution of glycine for glutamic acid. Hb C is commonly detected in West Africans and in African American but has not been reported in Malaysia. It can be falsely diagnosed as HbE trait i...

2014
Kritsada Singha Goonnapa Fucharoen Supan Fucharoen

Hemoglobin (Hb) Grey Lynn is a Hb variant caused by a substitution of Phe for Leu at position 91 of α1-globin chain, originally described in individual of unknown ethnic background. This article addresses the interaction of Hb Grey Lynn with a non-deletional α(+)-thalassemia found in Thailand, a hitherto un-described condition. The proband was adult Thai woman referred for investigation of mild...

Journal: :IACR Cryptology ePrint Archive 2008
Zbigniew Golebiewski Krzysztof Majcher Filip Zagórski Marcin Zawada

HB and HB+ are a shared secret-key authentication protocols designed for low-cost devices such as RFID tags. HB+ was proposed by Juels and Weis at Crypto 2005. The security of the protocols relies on the learning parity with noise (LPN) problem, which was proven to be NP-hard. The best known attack on LPN by Levieil and Fouque [13] requires subexponential number of samples and sub-exponential n...

2005
Francis S. Collins Corinne D. Boehm Pamela G. Waber Christian J. Stoeckert Sherman M. Weissman Haig H. Kazazian

Hereditary persistence of fetal hemoglobin (HPFH) is a genetically heterogeneous and clinically benign condition characterized by persistent expression of fetal hemoglobin (Hb F) into adulthood. In the G, + type. no major deletions in the globin gene cluster occur; adult heterozygotes produce approximately 20% Hb F. which results from overproduction of chains. with no apparent increase in produ...

Journal: :Medical principles and practice : international journal of the Kuwait University, Health Science Centre 2005
M Haider A Adekile

OBJECTIVES In the Arabian Gulf region, hemoglobin (Hb) H disease usually results from homozygosity or compound heterozygosity involving the alpha2-globin gene polyadenylation (poly A) signal (AATAAA-->AATAAG) mutation (alpha(T)alpha). Here we document the clinical and hemato logical characteristics of children with Hb H disease being followed in Kuwait. SUBJECTS AND METHODS Twenty-four patien...

Journal: :Applied and environmental microbiology 1998
M Joshi S Mande K L Dikshit

In the strictly aerobic, gram-negative bacterium Vitreoscilla strain C1, oxygen-limited growth conditions create a more than 50-fold increase in the expression of a homodimeric heme protein which was recognized as the first bacterial hemoglobin (Hb). The recently determined crystal structure of Vitreoscilla Hb has indicated that the heme pocket of microbial globins differs from that of eukaryot...

2013
Chatchai Muanprasat Chokdee Wongborisuth Nutthapoom Pathomthongtaweechai Saravut Satitsri Suradej Hongeng

In beta thalassemia/hemoglobin E (Hb E), abnormally high levels of oxidative stress account for accelerated senescence and increased destruction of erythrocytes. The present study aimed to investigate the role of glutathione efflux transporters, namely cystic fibrosis transmembrane conductance regulator (CFTR) and multidrug resistance-associated protein 1 (MRP1), in the control of glutathione l...

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