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, cilt.124, sa.2, ss.120-124, 2010 (SCI-Expanded, Scopus)
- Yayın Türü: Makale / Tam Makale
- Cilt numarası: 124 Sayı: 2
- Basım Tarihi: 2010
- Doi Numarası: 10.1159/000318737
- Dergi Adı: Acta Haematologica
- Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
- Sayfa Sayıları: ss.120-124
- Anahtar Kelimeler: α+-Thalassemia, Hb S-Wake, Novel β-chain variant, Phenotype/genotype, Sickling disorder
- Ankara Yıldırım Beyazıt Üniversitesi Adresli: Hayır
Özet
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 βS 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 (-α3.7/- α3.7) simultaneously which resulted in multiple globin gene abnormalities. © 2010 S. Karger AG, Basel.