Article
A Novel β-Thalassemia Mutation [IVS-I-6 (T>G), HBB: c.92+6T>G] in a Chinese Family.
Hemoglobin - 1 Jan 2020
Luo Haiyan, Zou Yongyi, Liu Yanqiu
Abstract excerpt
β-Thalassemia (β-thal) is one of the most common inherited hemoglobin (Hb) disorders in southern China. Up to now, the mutation spectrum of β-thal has been increasingly broadened through various molecular methods. In this study, a 34-year-old female displaying microcytic, hypochromic anemia was f...
Topics
- Adult
- Alleles
- Anemia, Hypochromic
- Asian People
- Child
- Family
- Female
- Gene Expression
- Genotype
- Hemoglobin A2
- Hemoglobins, Abnormal
- Humans
- Middle Aged
- Mutation
- Pedigree
- Phenotype
- Polymerase Chain Reaction
- Sequence Analysis, DNA