A novel mutation of the alpha2-globin causing alpha(+)-thalassemia: Hb Plasencia [alpha125(H8)Leu--Arg (alpha2).

Abstract

We describe, in a Spanish family with moderate microcytosis and hypochromia, a novel nondeletional alpha-thalassemia (thal) mutation localized on the alpha2-globin gene. DNA sequencing revealed a point mutation at codon 125 (CTG --> CGG) in the heterozygous state, that was confirmed by restriction analysis. The resulting variant, which causes a nondeletional alpha-thal, was named Hb Plasencia [alpha125(H8)Leu --> Arg (alpha2)] after the place of residence of the affected family.

• Authors: Guillermo Martin, Ana Villegas, Fernando Ataulfo González, Paloma Ropero, Ricardo Hojas, Marta Polo, Marta Mateo, Maria Salvador, Celina Benavente
• Journal: Hemoglobin (Hemoglobin) Vol. 29 Issue 2 Pg. 113-7 ( 2005) ISSN: 0363-0269 [Print] England
• PMID: 15921163 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• Hemoglobins, Abnormal
• Globins

Topics

• Adult
• Aged
• Amino Acid Substitution
• DNA Mutational Analysis
• Family Health
• Female
• Globins (genetics)
• Hemoglobins, Abnormal (genetics)
• Humans
• Male
• Middle Aged
• Point Mutation (genetics)
• Spain
• alpha-Thalassemia (genetics)