Hb Oita [alpha45(CE3)His-->Pro]: a new silent hemoglobin variant. 1998

K Hamaguchi, and K Harano, and T Harano, and T Sakata
Department of Internal Medicine I, Oita Medical University School of Medicine, Hasama, Japan.

We describe a new alpha chain variant accidentally found in a 49-year-old female living in Usa City, Oita Prefecture, Japan. An abnormally low Hb A1c value of 2.5% (normal range: 4.8-6.3%) was found while she was treated with glucocorticoid for Fisher syndrome. The patient was also diagnosed as having an iron deficiency anemia, but otherwise showed a normal hemogram. An abnormal hemoglobin was not detectable by isoelectrofocusing and high performance liquid chromatographic methods, but appeared as a fast-moving alpha chain abnormality by urea-carboxymethyl cellulose column chromatography of the globin, from which the content of the abnormal hemoglobin was estimated at approximately 20%. The instability test of the hemolysate was normal. Structural studies demonstrated that the abnormal hemoglobin had an amino acid substitution of His-->Pro at alpha45. It is a new variant and was named Hb Oita or alpha45(CE3) His-->Pro. Additionally, sequence analysis showed a nucleotide change from A-->C at the second base in the 45th codon of the alpha2 gene, CAC(His)-->CCC (Pro). The beta/alpha ratio was 0.51 (normal range: 0.9-1.2). Her mother and a son did not have the abnormal hemoglobin variant; her father was deceased and no sample was available to verify the inheritance of the variant in this kindred.

UI MeSH Term Description Entries
D008297 Male Males
D008875 Middle Aged An adult aged 45 - 64 years. Middle Age
D005260 Female Females
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

Related Publications

K Hamaguchi, and K Harano, and T Harano, and T Sakata
January 1994, Hemoglobin,
K Hamaguchi, and K Harano, and T Harano, and T Sakata
November 2000, Hemoglobin,
K Hamaguchi, and K Harano, and T Harano, and T Sakata
January 1989, Hemoglobin,
K Hamaguchi, and K Harano, and T Harano, and T Sakata
February 1996, Hemoglobin,
K Hamaguchi, and K Harano, and T Harano, and T Sakata
October 1993, Hemoglobin,
K Hamaguchi, and K Harano, and T Harano, and T Sakata
November 1997, Hemoglobin,
K Hamaguchi, and K Harano, and T Harano, and T Sakata
August 2003, Hemoglobin,
K Hamaguchi, and K Harano, and T Harano, and T Sakata
February 2000, Hemoglobin,
K Hamaguchi, and K Harano, and T Harano, and T Sakata
January 2009, Hemoglobin,
Copied contents to your clipboard!