Genetic Blood Disorders

Genetic blood disorders are inherited conditions caused by changes in genes that affect the production, function, or lifespan of blood cells. These disorders can involve red blood cells, white blood cells, platelets, or clotting factors and may range from mild conditions to life-threatening diseases. They are usually passed from parents to children and can be detected through blood tests and genetic testing.

Common genetic blood disorders include Sickle Cell Disease, Thalassaemia, G6PD Deficiency, Hereditary Spherocytosis, and Haemophilia. Symptoms vary depending on the condition but may include fatigue, frequent infections, easy bruising, excessive bleeding, jaundice, bone pain, or enlarged spleen. Some individuals show symptoms from infancy, while others remain undiagnosed until adulthood.

Diagnosis typically involves a complete blood count (CBC), blood smear examination, haemoglobin electrophoresis, enzyme testing, clotting studies, and genetic analysis. Early diagnosis is particularly important for newborns with inherited blood conditions, as prompt treatment can reduce complications.

Treatment depends on the specific disorder and may include blood transfusions, iron chelation therapy, medications, clotting factor replacement, antibiotics, folic acid supplements, or stem cell transplantation in selected cases. Regular monitoring by a haematologist helps manage symptoms and prevent complications.

Genetic counselling is also valuable for individuals and families with a history of inherited blood disorders, helping them understand inheritance patterns, carrier status, and future family planning options.