Novel hemoglobin α chain elongation resulting from a 15-residue insertion and tandem duplication of the F helix

Clinical Biochemistry

Volumn 41, Issue 14-15, 2008, Pages 1156-1161

  Brennan, Stephen O ^a,d   Owen, Maurice C ^b   Chan, Tim ^a   Ruskova, Anna ^c  

^a CANTERBURY HEALTH LABORATORIES   (New Zealand)

^b Canterbury Scientific ^*  (New Zealand)

^c Diagnostic Medlab   (New Zealand)

^d UNIVERSITY OF OTAGO   (New Zealand)

Author keywords

Chain composition; Heme content; Large amino acid insertion; Mass spectrometry; Replication slippage; Unstable hemoglobin

Indexed keywords

2 PROPANOL; HEMOGLOBIN A1C; HEMOGLOBIN A2; HEMOGLOBIN ALPHA CHAIN;

ADULT; ARTICLE; CATION EXCHANGE; DNA SEQUENCE; ELECTROSPRAY MASS SPECTROMETRY; GENE DUPLICATION; GENE INSERTION; HEMOGLOBIN ANALYSIS; HEMOLYSATE; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; HUMAN; HUMAN TISSUE; MALE; PEPTIDE MAPPING; PRIORITY JOURNAL; REVERSED PHASE HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; SEQUENCE ANALYSIS;

ADULT; AMINO ACID SEQUENCE; CHROMATOGRAPHY, HIGH PRESSURE LIQUID; GENE DUPLICATION; HEMOGLOBINS; HUMANS; ION EXCHANGE; MALE; MOLECULAR SEQUENCE DATA; MUTAGENESIS, INSERTIONAL; PEPTIDE CHAIN ELONGATION, TRANSLATIONAL; PEPTIDE FRAGMENTS; PEPTIDES; PROTEIN STRUCTURE, SECONDARY; SEQUENCE ANALYSIS, PROTEIN; SPECTROMETRY, MASS, ELECTROSPRAY IONIZATION; TRYPSIN;

EID: 55849098455     PISSN: 00099120     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.clinbiochem.2008.05.011     Document Type: Article

References (19)

1. Brennan S.O. Fifty-eight years of haemoglobin analysis. Clin. Chem. 54 (2008) 8-12
2. Clegg J.B., Weatherall D.J., and Milner P.F. Haemoglobin Constant Springs-a chain termination mutation?. Nature 234 (1971) 337-340
3. 3.7 thalassemia deletion. Hemoglobin 31 (2007) 313-323
4. Prchal J.T., Cashman D.P., and Kan Y.W. Hemoglobin Long Island is caused by a single mutation (adenine to cytosine) resulting in a failure to cleave amino-terminal methionine. Proc. Natl. Acad. Sci. 83 (1986) 24-27
5. Moo-Penn W.F., Swan D.C., Hine T.K., Baine R.M., Jue D.L., Benson J.M., et al. Hb Catonsville (glutamic acid inserted between Pro-37(C2)alpha and Thr-38(C3)alpha). Nonallelic gene conversion in the globin system?. J. Biol. Chem. 264 (1989) 21454-21457
6. Kawata R., Ohba Y., Yamamoto K., Miyaji T., Makita R., Ohga K., et al. Hyperunstable hemoglobin Koriyama anti-Hb Gun Hill insertion of five residues in the b chain. Hemoglobin 12 (1988) 311-321
7. Greenberg J., Fairbanks V.F., Hoyer J., Thibodeau S.N., and Fairfax V.A. Hemoglobin Fairfax, a tandem duplication of b90-94 inserted between b94-95 proved by DNA sequence analysis; a previously undescribed unstable hemoglobin variant associated with severe haemolytic anemia and stroke during early childhood. Blood 90 suppl1 (1997) 27b
8. Carrell R.W., and Kay R. A simple method for the detection of unstable haemoglobins. Br. J. Haematol. 23 (1972) 615-619
9. Schmidt D., and Brennan S.O. Modified form of fibrinogen b chain (des-GlnBb), a potential long-lived marker of pancreatitis. Clin. Chem. 53 (2007) 2105-2111
10. Brennan S.O., and Mathews J.R.D. Hb Auckland (a87 His ® Asn): a new mutation of the proximal histidine identified by electrospray mass spectrometry. Hemoglobin 21 (1997) 393-403
11. Brennan S.O., Chan T., and Sheen C. Novel hemoglobin (Hb Grey Lynn) substitution (a91Leu ® Phe) affects heme interactions and a1b2 contacts. Clin. Chem. 53 (2007) 990-991
12. Dode C., Rochette J., and Krishnamoorty R. Locus assignment of human a globin mutations by selective amplification and direct sequencing. Br. J. Haematol. 76 (1990) 275-281
13. Owen M.C., and Hendy J.G. Haemoglobin Footscray or a133(H16)Ser ® Arg: a new hemoglobin variant. Hemoglobin 18 (1994) 19-27
14. Lovett S.T. Encoded errors: mutations and rearrangements mediated by misalignment at repetitive DNA sequences. Mol. Microbiol. 52 (2004) 1243-1253
15. Chen J.M., Chuzhanova N., Stenson P.D., Ferec C., and Cooper D.N. Meta-analysis of gross insertions causing human genetic disease: novel mutational mechanisms and the role of replication slippage. Hum. Mutat. 25 (2005) 207-221
16. Wajcman H., Blouquit Y., Vasseur C., Le Querrec A., Laniece M., Melevendi C., et al. Two new human hemoglobin variants caused by unusual mutational events: Hb Zaïre contains a five residue repetition within the alpha-chain and Hb Duino has two residues substituted in the beta-chain. Hum. Genet. 89 (1992) 676-680
17. Scott A.F., Phillips J.A., Young K.E., Kazazian H.H., Smith K.D., Charache S., et al. The molecular basis of hemoglobin Grady. Am. J. Hum. Genet. 33 (1981) 129-133
18. Préhu C., Groff P., Kalmes G., Golinska B., Riou J., Prome D., et al. Short insertion in a hemoglobin chain: Hb Esch, an unstable a1 variant with duplication of the sequence Ala65-Leu-Thr-Asn68. Blood Cells Mol. Dis. 31 (2003) 234-239
19. Cleek M.P., Gardiner M.B., Reese A.L., Harris H.F., Felice A.E., and Huisman T.H.J. The Atlanta family with Hb Grady revisited. Am. J. Hum. Genet. 35 (1983) 1314-1316