We found a match
Your institution may have rights to this item. Sign in to continue.
- Title
Molekularbiologische Diagnose von Thalassämien.
- Authors
Huber, K. R.; Kittl, Eva; Worofka, Brigitte; Hofmann, J.; Malyar, A.; Bauer, K.
- Abstract
Recently, the number of carriers of hemoglobinopathies in Central- and Western Europe has increased considerably due to changed migration patterns. It is therefore crucial to further our knowledge of this complex group of diseases and expand our capabilities for quick and reliable diagnosis. Such screening is comparably simple in the case of adults: first clues for the possible presence of hemoglobinopathies come from the evaluation of hematological routine parameters and can be validated by subsequent physicochemical analysis. However, the pre-eminent parameters for the diagnosis of thalassemias - namely the amounts ofHbA2 and HbF in the erythrocytes are decisive only if the patient is older than approximately one year. Additional molecular biological techniques are needed for pre- and postnatal screening. The most common alphathalassemias are caused by gene deletions which can be analyzed merely by PCR amplification. In contrast, the ß-thalassemias show*a high diversity of single point mutations or small deletions and require ah elaborate effort for diagnosis. The most common mutations (more than 95%), however, can be analyzed speedily and reliably -- by dot-blot and most recently by covalent reverse dot-blot techniques.
- Publication
Journal of Laboratory Medicine / Laboratoriums Medizin, 1994, Vol 18, Issue 7/8, p326
- ISSN
0342-3026
- Publication type
Article