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
| Autor: | Abdullah Kutlar, Steffen E. Meiler, Rupa Redding-Lallinger, Ferdane Kutlar, L Borders, Sule M. Bakanay |
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| Rok vydání: | 2010 |
| Předmět: |
Male
Heterozygote Adolescent Thalassemia Hemoglobin Sickle Anemia Sickle Cell Biology medicine.disease_cause Compound heterozygosity alpha-Thalassemia medicine Humans Allele Genetics Mutation Base Sequence Homozygote Genetic Variation Heterozygote advantage Hematology General Medicine medicine.disease Phenotype Molecular biology Protein Structure Tertiary Trans-acting Hemoglobin |
| Zdroj: | Acta Haematologica. 124:120-124 |
| ISSN: | 1421-9662 0001-5792 |
| DOI: | 10.1159/000318737 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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