Abstract

Autosomal recessive disorders, including Tay-Sachs disease, cystic fibrosis, phenylketonuria (PKU), and sickle cell anemia, are significant genetic diseases worldwide. This paper explores their genetic mutations, clinical manifestations, and inheritance patterns. Tay- Sachs disease results from HEXA gene mutations, causing nerve cell ganglioside accumulation. Cystic fibrosis arises from CFTR gene mutations, leading to mucus buildup. PKU stems from PAH gene mutations, causing phenylalanine accumulation and neurological issues. Sickle cell anaemia, caused by HBB gene mutations, leads to abnormal haemoglobin production and red blood cell deformation. Understanding these disorders' genetic basis is vital for accurate diagnosis and treatment development. Advanced genetic testing techniques, like next-generation sequencing, enable early diagnosis and personalized interventions. Ongoing research seeks to understand the interplay of genetic, environmental, and epigenetic factors in disease progression.