Volume 20 Issue 3
Genetic Counseling to Prevent Thalassemia and Hemoglobinopathy in the Indian Population
Seema Thakur*, Shubhnita Singh
Abstract
The prevalence of thalassemia carrier in the Indian population is 3% to 4%. Prevention of thalassemia and hemoglobinopathy is feasible through carrier testing by complete blood count examination and high-performance liquid chromatography. Abnormal hemoglobin (Hb) variants can interact with thalassemia traits to give rise to thalassemia major/intermedia or can be clinically silent. It is important to know when to perform invasive testing to prevent thalassemia and refer the patients for genetic counseling.
We selected 100 patients with thalassemia trait or structural Hb variants referred for antenatal genetic counseling. Both patients and their partners were screened for all the traits.
We discuss a step-wise approach to prevent thalassemia major, and highlight the common situations prevalent in India, which need genetic counseling and prenatal diagnosis.
During pregnancy, thalassemia screening should be made mandatory in all antenatal screening centers. Couples where both the partners are carriers of thalassemia or structural Hb variants should be offered genetic counseling to identify whether invasive tests are required.
Please fill the form to download the PDF of this article:
(* Mandatory fields)