BIOMAT Database Logo BIOMAT Database Logo

A new unstable alpha2-globin gene variant: Hb Chartres [alpha33(B14)Phe --> Ser]. 2003

Claude Préhu, and Elodie Mazurier, and Jean Riou, and Jean Kister, and Danielle Promé, and Suzy Richelme-David, and Lina Al Jassem, and Elisabeth Angellier, and Henri Wajcman
INSERM U468 and Service de Biochimie, Hôpital Henri Mondor AP-HP, Créteil, France.

UI MeSH Term Description Entries
D010649 Phenylalanine An essential aromatic amino acid that is a precursor of MELANIN; DOPAMINE; noradrenalin (NOREPINEPHRINE), and THYROXINE. Endorphenyl,L-Phenylalanine,Phenylalanine, L-Isomer,L-Isomer Phenylalanine,Phenylalanine, L Isomer
D005260 Female Females
D005602 France A country in western Europe bordered by the Atlantic Ocean, the English Channel, the Mediterranean Sea, and the countries of Belgium, Germany, Italy, Spain, Switzerland, the principalities of Andorra and Monaco, and by the duchy of Luxembourg. Its capital is Paris. Corsica,Saint Pierre and Miquelon,Miquelon and Saint Pierre,Miquelon and St. Pierre,St. Pierre and Miquelon
D005914 Globins A superfamily of proteins containing the globin fold which is composed of 6-8 alpha helices arranged in a characterstic HEME enclosing structure. Globin
D006455 Hemoglobins, Abnormal Hemoglobins characterized by structural alterations within the molecule. The alteration can be either absence, addition or substitution of one or more amino acids in the globin part of the molecule at selected positions in the polypeptide chains. Abnormal Hemoglobins
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000328 Adult A person having attained full growth or maturity. Adults are of 19 through 44 years of age. For a person between 19 and 24 years of age, YOUNG ADULT is available. Adults
D012694 Serine A non-essential amino acid occurring in natural form as the L-isomer. It is synthesized from GLYCINE or THREONINE. It is involved in the biosynthesis of PURINES; PYRIMIDINES; and other amino acids. L-Serine,L Serine
D014644 Genetic Variation Genotypic differences observed among individuals in a population. Genetic Diversity,Variation, Genetic,Diversity, Genetic,Diversities, Genetic,Genetic Diversities,Genetic Variations,Variations, Genetic
D020125 Mutation, Missense A mutation in which a codon is mutated to one directing the incorporation of a different amino acid. This substitution may result in an inactive or unstable product. (From A Dictionary of Genetics, King & Stansfield, 5th ed) Missense Mutation,Missense Mutations,Mutations, Missense

Related Publications

Claude Préhu, and Elodie Mazurier, and Jean Riou, and Jean Kister, and Danielle Promé, and Suzy Richelme-David, and Lina Al Jassem, and Elisabeth Angellier, and Henri Wajcman
Hb Canterbury [beta112(G14)Cys-->Phe]: a new, mildly unstable variant.
February 2002, Hemoglobin,
Claude Préhu, and Elodie Mazurier, and Jean Riou, and Jean Kister, and Danielle Promé, and Suzy Richelme-David, and Lina Al Jassem, and Elisabeth Angellier, and Henri Wajcman
A new unstable haemoglobin: Hb Buenos Aires, beta 85 (F1) Phe leads to Ser.
January 1973, Acta haematologica,
Claude Préhu, and Elodie Mazurier, and Jean Riou, and Jean Kister, and Danielle Promé, and Suzy Richelme-David, and Lina Al Jassem, and Elisabeth Angellier, and Henri Wajcman
Hb Bronte or alpha93(FG5)Val-->Gly: a new unstable variant of the alpha2-globin gene, associated with a mild alpha(+)-thalassemia phenotype.
August 2003, Hemoglobin,
Claude Préhu, and Elodie Mazurier, and Jean Riou, and Jean Kister, and Danielle Promé, and Suzy Richelme-David, and Lina Al Jassem, and Elisabeth Angellier, and Henri Wajcman
Hb Las Palmas or alpha 2 beta 2(49)(CD8)Ser----Phe, a mildly unstable hemoglobin variant.
January 1988, Hemoglobin,
Claude Préhu, and Elodie Mazurier, and Jean Riou, and Jean Kister, and Danielle Promé, and Suzy Richelme-David, and Lina Al Jassem, and Elisabeth Angellier, and Henri Wajcman
Hb Foggia or alpha 117(GH5)Phe -> Ser: a new alpha 2 globin allele affecting the alpha Hb-AHSP interaction.
January 2008, Haematologica,
Claude Préhu, and Elodie Mazurier, and Jean Riou, and Jean Kister, and Danielle Promé, and Suzy Richelme-David, and Lina Al Jassem, and Elisabeth Angellier, and Henri Wajcman
HB Hillingdon [alpha46(CE4)Phe-->Val (alpha1 Or alpha2)]: a new alpha chain hemoglobin variant.
January 2009, Hemoglobin,
Claude Préhu, and Elodie Mazurier, and Jean Riou, and Jean Kister, and Danielle Promé, and Suzy Richelme-David, and Lina Al Jassem, and Elisabeth Angellier, and Henri Wajcman
Hb H disease due to homozygosity for a rare alpha2-globin variant, Hb Sallanches.
January 2010, Hemoglobin,
Claude Préhu, and Elodie Mazurier, and Jean Riou, and Jean Kister, and Danielle Promé, and Suzy Richelme-David, and Lina Al Jassem, and Elisabeth Angellier, and Henri Wajcman
A new alpha-globin variant with increased oxygen affinity in a Swiss family: Hb Frauenfeld [alpha 138(H21)Ser-->Phe, TCC>TTC (alpha 2)].
January 2009, Hemoglobin,
Claude Préhu, and Elodie Mazurier, and Jean Riou, and Jean Kister, and Danielle Promé, and Suzy Richelme-David, and Lina Al Jassem, and Elisabeth Angellier, and Henri Wajcman
A new unstable hemoglobin variant with low oxygen affinity: Hb Ilmenau [beta41 (C7)Phe-->Cys].
May 2002, Hemoglobin,
Claude Préhu, and Elodie Mazurier, and Jean Riou, and Jean Kister, and Danielle Promé, and Suzy Richelme-David, and Lina Al Jassem, and Elisabeth Angellier, and Henri Wajcman
Hb Lake Tapawingo [α46(CE4)Phe→Ser; HBA2:c.140T>C]: a new unstable α chain hemoglobin variant associated with low systemic arterial saturation.
January 2011, Hemoglobin,
Copied contents to your clipboard!