Rare β Chain Hemoglobin Variants Found in Swedish Patients During HBA1cAnalysis
| ISSN: | 1532-432X 0363-0269 |
|---|---|
| DOI: | 10.3109/03630269308997484 |
| Přístupová URL adresa: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::74c65a62e67b8c4d3a03866b729b8fab https://doi.org/10.3109/03630269308997484 |
| Přírůstkové číslo: | edsair.doi.dedup.....74c65a62e67b8c4d3a03866b729b8fab |
| Autor: | B Landin, J O Jeppsson |
| Rok vydání: | 1993 |
| Předmět: |
Adult
Male Adolescent Hemoglobins Abnormal Clinical Biochemistry High-performance liquid chromatography Diabetes Mellitus medicine Humans Globin Beta (finance) Chromatography High Pressure Liquid Finland Genetics (clinical) Glycated Hemoglobin Hemoglobin J Sweden Chromatography Chemistry Isoelectric focusing Biochemistry (medical) Genetic Variation Hemoglobin variants Hematology Middle Aged Blood Protein Electrophoresis Trypsin medicine.disease Globins Hemoglobinopathy Mutation Female Hemoglobin Isoelectric Focusing medicine.drug |
| Zdroj: | Hemoglobin. 17:303-318 |
| ISSN: | 1532-432X 0363-0269 |
| DOI: | 10.3109/03630269308997484 |
| Popis: | Here we report the occurrence of five different beta chain hemoglobin variants not previously described in Sweden. The variants were found during quantification of HbA1c using ion exchange high performance liquid chromatography (HPLC) or isoelectrofocusing. Samples were examined either at protein level by separation of globin chains on C8 reversed phase HPLC, digestion with trypsin or lysylendopeptidase and separation of peptides by C18 reversed phase HPLC, or at DNA level by direct nucleotide sequencing of double-stranded DNA fragments amplified from exon 1 + 2 of the beta-globin gene. The variants were: Hb Raleigh [beta 1 (NA1)Val-->Ac-Ala], Hb J-Baltimore [beta 16(A13)Gly-->Asp], Hb Tacoma [beta 30(B12)Arg-->Ser], Hb K-Ibadan [beta 46(CD5)Gly-->Glu], and Hb Fukuyama [beta 77(EF1)His-->Tyr]. Hb Tacoma, Hb K-Ibadan, and Hb Fukuyama were slightly unstable in the isopropanol test, but no signs of hemolysis were found in the patients who all had normal hematological findings. |
| Databáze: | OpenAIRE |
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