RESUMO
We identified a novel abnormal hemoglobin variant caused by a frameshift mutation at nucleotide position 396 in exon 3 of the ß-globin gene (HBB): NM_000518:c.396delG. This variant causes an emergence of alternative amino acid sequence starting at codon 133 and a new stop codon formed in the 3' untranslated region (3'UTR) of the HBB gene at amino acid position 158. This ß-globin gene variant was identified in a woman with a long history of hemolytic anemia. We named this variant Hb Ryazan after the proband's city of origin.
Assuntos
Anemia Hemolítica , Hemoglobinas Anormais , Feminino , Humanos , Anemia Hemolítica/genética , Globinas beta/genética , Globinas beta/química , Códon de Terminação , Éxons , Mutação da Fase de Leitura , Hemoglobinas Anormais/genética , Hemoglobinas Anormais/química , MutaçãoRESUMO
Body temperature is one of the four physical signs and clinically, the axillary temperature is the most commonly used as the index of body temperature. The study on relation of the difference of the left and right axillary temperature with constitution types and diagnosis of diseases proves that the temperature of the left and right axillary is correlated with excess and insufficiency of Yin and Yang, namely, higher left axillary temperature is recognized as Yin-deficiency and Yang-excess, and higher right axillary temperature as Yang-deficiency and Yin-excess, and this can guide clinical syndrome differentiation treatment of acupuncture and moxibustion and individual diagnostic and therapeutic program can be established based on this.
