Rare form of autosomal dominant thalassemia--hemoglobin Hakkari.
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.
Division of Pediatric Hematology and Oncology, Department of Pediatrics, University of Florida, Gainesville, Florida.
Sushmita
S
Nair
Lamis K
LK
Eldjerou
Neil S
NS
Harris
Levette N
LN
Dunbar
D002675:Child, Preschool; D005091:Exons; D005260:Female; D006455:Hemoglobins, Abnormal / Q000235:genetics*; D006801:Humans; D009154:Mutation; D055544:beta-Globins / Q000235:genetics; D017086:beta-Thalassemia / Q000097:blood / Q000235:genetics*
D006455:Hemoglobins, Abnormal; D055544:beta-Globins; C095950:hemoglobin Hakkari
anemias; hemoglobinopathies; thalassemia; unstable hemoglobins