Rare form of autosomal dominant thalassemia-Hemoglobin Hakkari

Autor:	Lamis Eldjerou, Levette N. Dunbar, Neil S. Harris, Sushmita Nair
Rok vydání:	2014
Předmět:	Genetics congenital hereditary and neonatal diseases and abnormalities Anemia Thalassemia Hematology Biology medicine.disease Hemolysis Frameshift mutation Exon Oncology hemic and lymphatic diseases Pediatrics Perinatology and Child Health medicine Hemoglobin Beta (finance) HEMOGLOBIN HAKKARI
Zdroj:	Pediatric Blood & Cancer. 61:2118-2120
ISSN:	1545-5009
DOI:	10.1002/pbc.25082
Popis:	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.
Databáze:	OpenAIRE
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