Article
Identification of Mutations Causing Aberrant Termination and Deficient Splice Donor Site on the HBA1 Gene.
Hemoglobin - 1 Jan 2016
Farashi Samaneh, Vakili Shadi, Garous Negin F, Ashki Mehri, Forouzesh Pour Fatemeh, Zeinali Fatemeh, Rad Fariba, Imanian Hashem, Azarkeivan Azita, Najmabadi Hossein
Abstract excerpt
α-Thalassemia (α-thal) is a common genetic disorder in Iran and many parts of the world. Genetic defects on the α-globin gene cluster can result in α-thal that may develop a clinical phenotype varying from almost asymptomatic to a lethal hemolytic anemia. In the present study, four Iranian individuals with hypochromic microcytic anemia, who revealed none of the known mutations responsible for α-thal, were...
Topics
- Adult
- Anemia, Hypochromic
- Base Sequence
- Female
- Genes, Dominant
- Glycated Hemoglobin
- Humans
- Male
- Molecular Sequence Data
- Mutation
- RNA Splice Sites
- alpha-Globins
- alpha-Thalassemia