Two new variants with the same substitution at position β122: Hb Bushey [β3122(GH5)Phe → Leu] and Hb Casablanca [β65(E9)Lys → Met;β122(GH5)Phe → Leu]

Hemoglobin

Volumn 24, Issue 2, 2000, Pages 125-132

  Wajcman, Henri ^a   Drupt, F ^b   Henthorn, J S ^c   Kister, J ^d   Prehu C ^a   Riou, J ^a   Prome D ^e   Galacteros F ^a  

^a HENRI MONDOR HOSPITAL   (France)

^b FOCH HOSPITAL   (France)

^c CENTRAL MIDDLESEX HOSPITAL   (United Kingdom)

^d INSERM   (France)

^e Université Paul Sabatier   (France)

Author keywords

[No Author keywords available]

Indexed keywords

HEMOGLOBIN A; HEMOGLOBIN VARIANT;

ADULT; AMINO ACID SUBSTITUTION; ARTICLE; CASE REPORT; CLINICAL FEATURE; ELECTROPHORESIS; FEMALE; HEMOGLOBIN ANALYSIS; HEMOGLOBINOPATHY; HUMAN; MASS SPECTROMETRY; NEWBORN; OXYGEN AFFINITY; POINT MUTATION; STRUCTURE ANALYSIS;

EID: 0034082184     PISSN: 03630269     EISSN: None     Source Type: Journal    
DOI: 10.3109/03630260009003431     Document Type: Article

References (13)

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3. Hocking, D.R.: The Separation and Identification of Hemoglobin Variants by Isoelectric Focusing Electrophoresis: an Interpretive Guide, edited by T.H.J. Huisman, Isolab Inc., Akron, OH, USA, 1997.
4. Schneider, R.G. and Barwick, R.C.: Electrophoretic mobilities of mutant hemoglobins and mutant globin chains. In: CRC Handbook Series in Clinical Laboratory Science, Section I: Hematology, edited by R.M. Schmidt and V.F. Fairbanks, Vol. IV, pages 125-139, CRC Press, Boca Raton, FL, USA, 1986.
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9. Wajcman, H., Blouquit, Y., Vasseur, C., Le Querrec, A., Laniece, M., Melevendi, C., Rasore, A., and Galactéros, F.: Two new human hemoglobin variants caused by unusual mutational events: Hb Zaïre that contains a five residue repetition within the α-chain and Hb Duino has two residues substituted in the β-chain. Hum. Genet., 78:676-680, 1992.
10. 2 56(D7) Gly→Arg and 86 (F2) Ala→Pro. Eur. J. Biochem., 153:655-662, 1985.
11. van den Berg, H.M., Bruin, M.C.A., Batelaan, D., van Delft, P., van Zwieten, R., Roos, D., Harteveld, C.L., Bernini, L.F., and Giordano, P.C.: Hb Nijkerk: a new mutation at codons 138/139 of the β-globin gene inducing severe hemolytic anemia in a Dutch girl. Hemoglobin, 23:135-144, 1999.
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13. Préhu, C., Bost, M., Barro, C., Promé, D., Riou, J., Godart, C., Kister, J., Galactéros, F., and Wajcman, H.: Hb Roubaix [α55(E4)Val→Leu]: a new neutral hemoglobin variant involving the α1 gene. Hemoglobin, 24:361-365, 1999.