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J. Lafferty, M. Ali, K. Matthew, B. Eng, M. Patterson, J. Waye (1995)
Identification of a new high oxygen affinity hemoglobin variant: Hb Aurora [beta 139(H17) Asn-->Tyr].Hemoglobin, 19 6
R. Redding-Lallinger, Gaye Tankut, L. Holley, F. Wright, A. Kutlar, F. Kutlar (2002)
MOLECULAR CHARACTERIZATION OF Hb D-IBADAN [β87(F3)Thr→Lys] IN COMBINATION WITH Hb S [β(A3)Glu→Val] AND WITH β+-THALASSEMIA: REPORT OF TWO CASESHemoglobin, 26
N. Monplaisir, GuY MERAULTtt, C. Poyart, MARIE-DOMINIQUE RHODAt, Constantin Craescui, Michel VIDAUDt, FREDtRIC GALACTEROSt, Yves BLOUQUITt, J. Rosat (1986)
Hemoglobin S Antilles: a variant with lower solubility than hemoglobin S and producing sickle cell disease in heterozygotes.Proceedings of the National Academy of Sciences of the United States of America, 83 24
P. Como, D. Hocking, G. Swinton, R. Trent, R. Holland, E. Tibben, T. Wilkinson, H. Kronenberg (1991)
HB geelong [β139(H17)ASN → ASP]Hemoglobin, 15
M. Perutz, D. Shih, D. Williamson (1994)
The chloride effect in human haemoglobin. A new kind of allosteric mechanism.Journal of molecular biology, 239 4
J. Stuart (1975)
The Detection of HemoglobinopathiesJournal of Clinical Pathology, 28
(1997)
A syllabus of hemoglobin variants
J. Lafferty, Mohammad Ali, K. Matthew, B. Eng, M. Patterson, J. Waye (1995)
Identifican of A New High Oxygen Affinity Hemoglobin Variant: Hb Aurora [β139(H17)Asn→Tyr]Hemoglobin, 19
J. Langdown, D. Williamson, C. Knight, D. Rubenstein, R. Carrell (1989)
A NEW DOUBLY SUBSTITUTED SICKLING HAEMOGLOBIN: HbS‐OMANBritish Journal of Haematology, 71
I. Zanella-Cléon, C. Préhu, P. Joly, J. Riou, M. Becchi, H. Wajcman, A. Francina (2009)
Strategy for Identification by Mass Spectrometry of a New Human Hemoglobin Variant with Two Mutations in Cis in the β-Globin Chain: Hb S-Clichy [β6(A3)Glu→Val; β8(A5)Lys→Thr]Hemoglobin, 33
A. Geva, Jennifer Clark, Yuxun Zhang, A. Popowicz, J. Manning, E. Neufeld (2004)
Hemoglobin Jamaica plain--a sickling hemoglobin with reduced oxygen affinity.The New England journal of medicine, 351 15
(1995)
variant : Hb Aurora [ 139 ( H 17 ) Asn ] Tyr ]
F. Kutlar (2007)
Diagnostic Approach to HemoglobinopathiesHemoglobin, 31
(1986)
Sickle cell disease-clinical and epidemiological aspects; in Bunn HF, Forget BG (eds): Hemoglobin: Molecular, Genetic, and Clinical Aspects
E. Shapira (1991)
Techniques in diagnostic human biochemical geneticsAmerican Journal of Human Genetics, 49
(1986)
Sickle cell disease-clinical and epidemiological aspects
E. Baysal, T. Huisman (1994)
Detection of common deletional α‐thalassemia‐2 determinants by PCRAmerican Journal of Hematology, 46
A. Miyazaki, T. Nakanishi, M. Kishikawa, T. Nakagawa, A. Shimizu, A. Mawjood, K. Imai, Y. Aoki, M. Kikuchi (1999)
Compound heterozygosity for beta(+)-thalassemia [-31 (A-->G)] and a new variant with low oxygen affinity, Hb Sagami [beta139(H17)Asn-->Thr].Hemoglobin, 23 3
(2010)
Reproduced with the permission
W. Moo-Penn, M. Johnson, D. Jue, R. Lonser (1989)
Hb Hinsdale [beta 139 (H17)Asn----Lys]: a variant in the central cavity showing reduced affinity for oxygen and 2,3-diphosphoglycerate.Hemoglobin, 13 5
(1999)
Compound heterozygosity for  + -thalassemia
We report the case of a 14-year-old African-American boy who was diagnosed with sickle cell disease. Laboratory tests showed that the patient was a compound heterozygote for a novel Hb variant with a double mutation detected on β<sup>S</sup> allele, Hb S βGlu6Val, and βAsn139Ser substitution, i.e. a β-chain variant named ‘Hb S-Wake’. The patient also carried a single Hb S mutation in trans allele, leading to Hb SS-Wake disease. He had coinherited homozygous α<sup>+</sup>-thalassemia (–α<sup>3.7</sup>/–α<sup>3.7</sup>) simultaneously which resulted in multiple globin gene abnormalities.
Acta Haematologica – Karger
Published: Jan 1, 2010
Keywords: Hb S-Wake; Novel β-chain variant; Phenotype/genotype; Sickling disorder; α + -Thalassemia
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