Klinische und medizinische Biochemie

Abstrakt

Prenatal Screening for Co-Inheritance of Sickle Cell Anemia and β-Thalassemia Traits

Dipali Dhawan, Spandan Chaudhary, Khyati Chandratre, Arpita Ghosh, Niraj Sojitra, Sandip Hirapara, Sanjay Singh and Prashanth G Bagali

Co-inheritance of sickle cell anemia and β-thalassemia traits require medical attention. Individuals with sickle cell and β-thalassemia disorders produce abnormal form of hemoglobin or decreased synthesis or complete absence of the β-globin chains of hemoglobin. Therefore, affected individuals might require blood transfusions at regular intervals. Prenatal diagnosis of fetal hemoglobinopathy should be offered when the fetus is at risk of being affected. The aim of this study was to assess the applicability of the nucleotide sequencing method in the identification of both diseases and to identify and counsel asymptomatic parents to make reproductive choices. We demonstrate the ability to detect these traits in a family, which was suspected to be carrying β-thalassemia mutations as per the clinician.