Hb Bronovo, a new globin gene mutation at alpha2 103 (His->Leu) associated with an alpha thalassemia phenotype.

Abstract

Mild alpha-thalassemia, a common condition in many ethnic groups, presents with hematologic abnormalities almost identical to those found in iron deficiency. We report a new alpha globin chain variant associated with an alpha-thalassemia phenotype in two members of a Turkish family.

• Authors: Cornelis L Harteveld, Gerard Steen, L Thomas Vlasveld, Peter van Delft, Piero C Giordano
• Journal: Haematologica (Haematologica) Vol. 91 Issue 4 Pg. 570-1 (Apr 2006) ISSN: 1592-8721 [Electronic] Italy
• PMID: 16533721 (Publication Type: Case Reports, Letter)

Chemical References

• Hemoglobins, Abnormal
• hemoglobin Bronovo
• Globins

Topics

• Adult
• Family Health
• Female
• Globins (genetics)
• Hemoglobins, Abnormal (genetics)
• Humans
• Mutation, Missense
• Turkey
• alpha-Thalassemia (genetics)