Hb riccarton [α51(CE9)Gly→Ser]: A variant arising from a novel mutation in the α1 gene

Hemoglobin

Volumn 29, Issue 1, 2005, Pages 61-64

  Brennan, Stephen O ^a   Chan, Tim ^a   Obele, Mary ^b   George, Peter M ^a  

^a CANTERBURY HEALTH LABORATORIES   (New Zealand)

^b Riccarton Clinic   (New Zealand)

Author keywords

1 gene; Electrospray ionization mass spectrometry (ESI MS); Novel mutation

Indexed keywords

GLYCINE; HEMOGLOBIN RICCARTON; HEMOGLOBIN VARIANT; SERINE; UNCLASSIFIED DRUG;

ALPHA1 GENE; AMINO ACID SUBSTITUTION; ARTICLE; CASE REPORT; CONTROLLED STUDY; ELECTROSPRAY MASS SPECTROMETRY; FATIGUE; GENE; GENE MUTATION; HUMAN; MALE; MICROCYTOSIS; PRESCHOOL CHILD; GENETICS; POINT MUTATION;

AMINO ACID SUBSTITUTION; CHILD, PRESCHOOL; GLYCINE; HEMOGLOBINS, ABNORMAL; HUMANS; MALE; POINT MUTATION; SERINE;

EID: 14644399315     PISSN: 03630269     EISSN: None     Source Type: Journal    
DOI: 10.1081/HEM-200047061     Document Type: Article

References (4)

1. Brennan SO, Mathews JRD. Hb Auckland [α87(F8)His→Asn]: a new mutation of the proximal histidine identified by electrospray mass spectrometry. Hemoglobin 1997; 21(5):393-403.
2. Brennan SO. Electrospray ionisation analysis of human fibrinogen. Thromb Haemost 1997; 78(3):1055-1058.
3. Dode C, Rochette J, Krishnamoorthy R. Locus assignment of human α globin mutations by selective amplification and direct sequencing. Br J Haematol 1990; 76(2):275-281.
4. Huisman TJH, Carver MFH, Efremov GD. A Syllabus of Human Hemoglobin Variants. (Second Edition). Augusta: The Sickle Anemia Foundation, 1998, (http://globin.cse.psu.edu).