Article
β-Thalassemia mutations in Western India: outcome of prenatal diagnosis in a hemoglobinopathies project.
Hemoglobin - 1 Jan 2014
Patel Ashwin P, Patel Rupesh B, Patel Saumyaa A, Vaniawala Salil N, Patel Dipika S, Shrivastava Naina S, Sharma Narmadeshwar P, Zala Jayendrasinh V, Parmar Prakash H, Naik Madhuben R
Abstract excerpt
Prenatal diagnosis (PND) is one of the most cost effective preventive methods, but it is available only in the large cities of India. Therefore, we initiated a program that offers PND and allows us to determine the prevalence of various mutations. Pregnant females (n = 111,426) were screened for hemoglobinopathies using complete blood count (CBC) and high performance liquid chromatography (HPLC). If the female...
Topics
- Adult
- Codon
- Family Characteristics
- Female
- Gene Deletion
- Genetic Testing
- Humans
- India
- Introns
- Male
- Mutagenesis, Insertional
- Mutation
- Point Mutation
- Pregnancy