Browse genetic disorders content in conditions.
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Cystic fibrosis affects 100,000 people worldwide due to CFTR gene mutations causing thick mucus in lungs and pancreas. Elexacaftor-tezacaftor-ivacaftor (Trikafta) transforms outcomes for 90% of patients. Median survival now exceeds 50 years in high-income countries.
Down syndrome (trisomy 21) is the most common chromosomal condition, affecting 1 in 700-1000 births. Caused by an extra chromosome 21. Learn about prenatal screening, associated health conditions, developmental support, and life expectancy.
Genetic counselling helps individuals and families understand hereditary conditions, assess inheritance risk, and make informed decisions. Learn about BRCA testing, prenatal diagnosis, carrier screening, and genomic medicine.
Hemophilia is an X-linked bleeding disorder caused by deficiency of factor VIII (type A) or factor IX (type B). It affects 1 in 5,000 male births. Learn about factor replacement, emicizumab prophylaxis, gene therapy, and preventing haemarthrosis.
Muscular dystrophies are inherited diseases causing progressive muscle degeneration. Duchenne MD is the most severe, affecting 1 in 5,000 males. Learn about genetic testing, corticosteroids, exon skipping, and gene therapy.
Sickle cell disease (SCD) affects 8 million people globally and is the most common serious inherited blood disorder. Learn about vaso-occlusive crises, hydroxyurea, voxelotor, crizanlizumab, stem cell transplantation, and gene therapy.
Thalassemia is the world's most common inherited genetic disorder, affecting 100 million carriers globally. Learn about alpha and beta thalassemia, HbH disease, blood transfusions, iron chelation, and curative bone marrow transplantation.
Turner syndrome is a chromosomal condition in females caused by a missing or partial X chromosome (45,X), affecting 1 in 2,500 girls. Causes short stature, ovarian failure, and heart defects. Treated with growth hormone and oestrogen replacement.
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