Hb Evora [alpha2-35 (B16), Ser-->Pro], a novel hemoglobin variant associated with an alpha-thalassemia phenotype.

Abstract

We report a novel mutation in the alpha2-globin gene, codon 35 (T-->C), detected in two unrelated Portuguese families. This mutation gives rise to a previously undescribed hemoglobin (Hb) variant, which we named Hb Evora. This variant seems to be responsible for the alpha-thalassemia phenotype present in its carriers. It cannot be detected by conventional laboratory techniques, probably because of its highly unstable nature.

• Authors: Susana Gomes, Isabel Picanço, Armandina Miranda, Maria Teresa Seixas, Mafalda Oliveira, Luísa Romão, Paula Faustino
• Journal: Haematologica (Haematologica) Vol. 92 Issue 2 Pg. 252-3 (Feb 2007) ISSN: 1592-8721 [Electronic] Italy
• PMID: 17296578 (Publication Type: Case Reports, Letter, Research Support, Non-U.S. Gov't)

Chemical References

• Hemoglobins
• Hemoglobins, Abnormal

Topics

• Adult
• Child
• Child, Preschool
• Family Health
• Female
• Hemoglobins (genetics, physiology)
• Hemoglobins, Abnormal (genetics)
• Heterozygote
• Humans
• Male
• Mutation
• Phenotype
• Polymerase Chain Reaction
• Portugal
• alpha-Thalassemia (blood, genetics)