Question

What type of genetic disorder is sickle cell anemia classified as when detected through amniocentesis?

Options

• A chromosomal abnormality involving an extra chromosome

• An autosomal dominant inheritance disorder

• A haemoglobinopathy involving defective hemoglobin molecule

• A neural tube defect involving spinal cord malformation

Answer 1

Sickle cell anemia is classified as a haemoglobinopathy—a disorder of hemoglobin structure and function. The condition results from a point mutation in the β-globin gene, causing the production of abnormal hemoglobin that polymerizes under low oxygen conditions, which amniocentesis can detect.