Rare form of autosomal dominant thalassemia--hemoglobin Hakkari.

Abstract

Autosomal dominant Beta Thalassemias are rare and are due to point or frame shift mutations resulting in production of abnormal unstable beta chains of hemoglobin which precipitate leading to hemolysis and anemia. We describe a case of Hemoglobin Hakkari, a rare variant of dominant Thalassemia arising due to a de novo mutation in the exon 2 of the beta globin gene.

• Authors: Sushmita Nair, Lamis K Eldjerou, Neil S Harris, Levette N Dunbar
• Journal: Pediatric blood & cancer (Pediatr Blood Cancer) Vol. 61 Issue 11 Pg. 2118-20 (Nov 2014) ISSN: 1545-5017 [Electronic] United States
• PMID: 24789613 (Publication Type: Case Reports, Journal Article)
• Copyright: © 2014 Wiley Periodicals, Inc.

Chemical References

• Hemoglobins, Abnormal
• beta-Globins
• hemoglobin Hakkari

Topics

• Child, Preschool
• Exons
• Female
• Hemoglobins, Abnormal (genetics)
• Humans
• Mutation
• beta-Globins (genetics)
• beta-Thalassemia (blood, genetics)