التفاصيل البيبلوغرافية
| العنوان: |
Hb Cibeles [α CD25(B6) (Gly → Asp)]: a novel alpha chain variant causing alpha-thalassemia. |
| المؤلفون: |
Fuente-Gonzalo, Félix, Nieto, Jorge, Vinuesa, Lara, Sevilla, Julián, Díaz-Mediavilla, Joaquín, Villegas, Ana, González, Fernando, Ropero, Paloma |
| المصدر: |
International Journal of Hematology; Dec2014, Vol. 100 Issue 6, p599-601, 3p |
| مستخلص: |
Thalassemias are the most frequent monogenic disorders around the world and are a serious health problem in areas with a high incidence. Thalassemias are particularly frequent in Mediterranean countries, the Middle East, Africa, the Indian subcontinent, and in the Southeast Asia. Of these, α-thalassemia is inherited as an autosomal recessive disorder. α-thalassemias are due to a deficiency or absence of hemoglobin (Hb) α-chain synthesis and are characterized by microcytic and hypochromic cells anemia and a clinical phenotype varying from nearly asymptomatic to a lethal hemolytic anemia. Compound heterozygotes and some homozygotes have a moderate to severe form of α-thalassemia called HbH disease. Hb Bart's hydrops fetalis is a lethal form in which no α-globin chain is synthesized. In this study we show a new structural variant of α-chain, Hb Cibeles [alpha 25(B6) Gly → Asp], in heterozygous state, which was undetectable by electrophoretic or chromatographic methods. Hb Cibeles is thus a hyper-unstable hemoglobinopathy. In this new globin chain variant, an apolar amino acid is replaced by a negatively charged amino acid. This change may be responsible for the molecular hyper-instability similar to the mutation in the adjacent residues. [ABSTRACT FROM AUTHOR] |
|
Copyright of International Journal of Hematology is the property of Springer Nature and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.) |
| قاعدة البيانات: |
Complementary Index |
Find this article in full text from Springer Verlag. 
Full Text Finder