Literature DB >> 9140717

Hb T-Cambodia, a beta chain variant with the mutations of Hb E and Hb D-Punjab, confirmed by DNA analysis.

P J Hutt1, V F Fairbanks, S N Thibodeau, M M Green, J D Hoyer, S H Block, C Day, R T Jones, R C Barwick.   

Abstract

Hemoglobin variants with two amino acid substitutions affecting one globin chain are relatively rare. Hb T-Cambodia, a doubly substituted beta-globin variant, was characterized previously by amino acid sequencing as having sequence alterations in beta 26 (beta 8)Glu-->Lys and beta 121(GH4) Glu-->Gln (1). It is a variant that migrates cathodic to Hb A2 on alkaline electrophoresis and with Hb A on acid citrate agar electrophoresis. We report here the mutations of Hb T-Cambodia at the nucleotide level using DNA sequencing, in beta-globin gene codon 121 (GAA-->CAA) and in codon 26 (GAG-->AAG). These are the mutations of Hb D-Punjab and Hb E, respectively.

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Year:  1997        PMID: 9140717     DOI: 10.3109/03630269708997381

Source DB:  PubMed          Journal:  Hemoglobin        ISSN: 0363-0269            Impact factor:   0.849


  2 in total

1.  Hb Bristol-Alesha presenting thalassemia-type hyperunstable hemoglobinopathy.

Authors:  Gen Kano; Akira Morimoto; Shigeyoshi Hibi; Chika Tokuda; Shinjiro Todo; Tohru Sugimoto; Teruo Harano; Ayako Miyazaki; Akira Shimizu; Shinsaku Imashuku
Journal:  Int J Hematol       Date:  2004-12       Impact factor: 2.490

2.  Identification of the First Japanese Family Harboring a Novel Hemoglobin Variant "Perpignan", Which Caused Low HbA1c Measurement During Diabetic Follow-Up.

Authors:  Mami Nakamura; Ayako Miyazaki; Takayuki Takubo; Yoko Matsuzawa; Jun Saito; Masao Omura; Tetsuo Nishikawa
Journal:  Jpn Clin Med       Date:  2011-02-02
  2 in total

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