HbS-Savaria: The Anti-polymerization Effect of a Single Mutation in Human α-chains
✍ Scribed by Sonati Srinivasulu; A. Seetharama Acharya; Muthuchidambaran Prabhakaran; Mary E. Fabry; Raouf Alami; Steven N. Fiering; Eric E. Bouhasirra; Ronald L. Nagel
- Book ID
- 106423779
- Publisher
- Springer
- Year
- 2007
- Tongue
- English
- Weight
- 417 KB
- Volume
- 26
- Category
- Article
- ISSN
- 1573-4943
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## Summary This study describes a new molecular condition in the α~__2__~__‐__globin gene (__HBA2__) found in six unrelated families from Southern Italy (Campania and Sicily). This new double mutant form of haemoglobin is called Hb Southern Italy and originated from the coexistence of two known mut
With rare exceptions, the more than 600 human hemoglobin variants described are caused by a single point mutation. Other abnormal features, such as unequal crossing-over, frameshift mutagenesis or double mutations in the same polypeptide chain, have seldom been encountered. We report two new variant