Hb nijkerk: A new mutation at codons 138/139 of the β-giobin gene inducing severe hemolytic anemia in a dutch girl
| Autor: | Piero C. Giordano, P. van Delft, H. M. van den Berg, Marrie C.A. Bruin, D. Roos, Luigi F. Bernini, R. van Zwieten, C. L. Harteveld, D. Batelaan |
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| Rok vydání: | 1999 |
| Předmět: |
Proband
Hemolytic anemia Anemia Hemolytic Hemoglobin electrophoresis Adolescent Hemoglobins Abnormal Clinical Biochemistry Mutant Biology Loss of heterozygosity medicine Humans Codon Gene Genetics (clinical) Netherlands Biochemistry (medical) Hematology medicine.disease Molecular biology Hemolysis Globins Acute Disease Mutation Female Hemoglobin |
| Zdroj: | Hemoglobin. 23:135-144 |
| ISSN: | 1532-432X 0363-0269 |
| Popis: | We describe a new structural mutant of the beta-globin chain in a 17-year-old Dutch Caucasian girl. The mutant is associated with a severe pathology as a consequence of hyper-instability of the hemoglobin tetramer. The proband, whose parents had no history of hemolysis, was admitted to the hospital at 5 months of age with hemolytic anemia and splenomegaly. No indications for autoimmune defects or enzymopathies were found. Repeated hemoglobin electrophoresis on cellulose acetate revealed no abnormalities. At the age of 17 years, a minor abnormal band of less than 1% was detected on starch gel electrophoresis, migrating slightly faster than Hb A2. Sequencing of the beta-globin gene revealed heterozygosity for a 4 bp deletion (GCTA) in combination with a 1 bp insertion (T) at codons 138/139. This event eliminates two amino acids (Ala-Asn) and introduces a new residue (Tyr). We discuss the hematological and the pathophysiological consequences of this mutant, which is fully expressed as a gene product, and apparently assembled into unstable tetramers that precipitate shortly after. |
| Databáze: | OpenAIRE |
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