A new sickling variant 'Hb S-Wake β[(Glu6Val-Asn139 Ser)]' found in a compound heterozygote with Hb S β(Glu6Val) coinherited with homozygous α-thalassemia-2: Phenotype and molecular characteristics

F. Kutlar; R. Redding-Lallinger; S. E. Meiler; S. M. Bakanay; L. Borders; A. Kutlar

doi:10.1159/000318737

A new sickling variant 'Hb S-Wake β[(Glu6Val-Asn139 Ser)]' found in a compound heterozygote with Hb S β(Glu6Val) coinherited with homozygous α-thalassemia-2: Phenotype and molecular characteristics

F. Kutlar, R. Redding-Lallinger, S. E. Meiler, S. M. Bakanay, L. Borders, A. Kutlar

Research output: Contribution to journal › Article › peer-review

4 Scopus citations

Abstract

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^S 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⁺-thalassemia (-α^3.7/- α^3.7) simultaneously which resulted in multiple globin gene abnormalities.

Original language	English (US)
Pages (from-to)	120-124
Number of pages	5
Journal	Acta Haematologica
Volume	124
Issue number	2
DOIs	https://doi.org/10.1159/000318737
State	Published - Oct 2010

Keywords

Hb S-Wake
Novel β-chain variant
Phenotype/genotype
Sickling disorder
α-Thalassemia

ASJC Scopus subject areas

Hematology

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10.1159/000318737

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Kutlar, F., Redding-Lallinger, R., Meiler, S. E., Bakanay, S. M., Borders, L., & Kutlar, A. (2010). A new sickling variant 'Hb S-Wake β[(Glu6Val-Asn139 Ser)]' found in a compound heterozygote with Hb S β(Glu6Val) coinherited with homozygous α-thalassemia-2: Phenotype and molecular characteristics. Acta Haematologica, 124(2), 120-124. https://doi.org/10.1159/000318737

A new sickling variant 'Hb S-Wake β[(Glu6Val-Asn139 Ser)]' found in a compound heterozygote with Hb S β(Glu6Val) coinherited with homozygous α-thalassemia-2: Phenotype and molecular characteristics. / Kutlar, F.; Redding-Lallinger, R.; Meiler, S. E. et al.
In: Acta Haematologica, Vol. 124, No. 2, 10.2010, p. 120-124.

Research output: Contribution to journal › Article › peer-review

Kutlar, F, Redding-Lallinger, R, Meiler, SE, Bakanay, SM, Borders, L & Kutlar, A 2010, 'A new sickling variant 'Hb S-Wake β[(Glu6Val-Asn139 Ser)]' found in a compound heterozygote with Hb S β(Glu6Val) coinherited with homozygous α-thalassemia-2: Phenotype and molecular characteristics', Acta Haematologica, vol. 124, no. 2, pp. 120-124. https://doi.org/10.1159/000318737

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A new sickling variant 'Hb S-Wake β[(Glu6Val-Asn139 Ser)]' found in a compound heterozygote with Hb S β(Glu6Val) coinherited with homozygous α-thalassemia-2: Phenotype and molecular characteristics

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