Schmugge, M; Waye, J S; Basran, R K; Zurbriggen, K; Frischknecht, H (2008). THE Hb S/beta+ -thalassemia phenotype demonstrates that the IVS-I (-2) (A>C) mutation is a mild beta-thalassemia allele. Hemoglobin, 32(3):303-307.
We report a family in which two siblings are compound heterozygotes for Hb S [beta6(A3)GluVal] and a rare beta-globin mutation [IVS-I (-2) (A>C)]. Both patients had significant levels of Hb A, indicating that the IVS-I (-2) mutation is a relatively mild beta(+)-thalassemia (beta(+)-thal) allele. This mutation, in compound heterozygosity with Hb S, does not necessarily lead to a mild clinical course.
We report a family in which two siblings are compound heterozygotes for Hb S [beta6(A3)GluVal] and a rare beta-globin mutation [IVS-I (-2) (A>C)]. Both patients had significant levels of Hb A, indicating that the IVS-I (-2) mutation is a relatively mild beta(+)-thalassemia (beta(+)-thal) allele. This mutation, in compound heterozygosity with Hb S, does not necessarily lead to a mild clinical course.
| Item Type: | Journal Article, refereed, original work |
|---|---|
| Communities & Collections: | 04 Faculty of Medicine > University Children's Hospital Zurich > Medical Clinic |
| Dewey Decimal Classification: | 610 Medicine & health |
| Scopus Subject Areas: | Health Sciences > Hematology
Life Sciences > Clinical Biochemistry Health Sciences > Genetics (clinical) Health Sciences > Biochemistry (medical) |
| Language: | English |
| Date: | 2008 |
| Deposited On: | 05 Mar 2009 10:53 |
| Last Modified: | 02 Dec 2023 02:40 |
| Publisher: | Informa Healthcare |
| ISSN: | 0363-0269 |
| OA Status: | Closed |
| Publisher DOI: | https://doi.org/10.1080/03630260802004459 |
| PubMed ID: | 18473247 |
Schmugge, M