Inherited diseases refer to medical conditions caused by genetic mutations that are inherited from one generation to the next. These mutations can cause a variety of health issues ranging from long-term illnesses to life-threatening conditions.
Nigeria, among other countries, has a high incidence of inherited diseases which are caused by gene defects passed down from parents to their children. These diseases can significantly affect an individual’s health and overall quality of life. Unfortunately, many Nigerians are not aware of their risk of developing or passing on inherited diseases due to limited access to genetic testing and counseling.
This article will discuss the common inherited diseases in Nigeria, their causes, and available treatments.
10 Inherited Diseases In Nigeria
1. Muscular Dystrophy
Muscular dystrophy is a group of inherited disorders that affect the muscles, leading to weakness and wasting. It is caused by genetic mutations that affect the production of muscle proteins. Symptoms of muscular dystrophy include muscle weakness, difficulty walking, and respiratory problems. Treatment options include physiotherapy, medication, and surgery.
2. Cystic Fibrosis
Cystic Fibrosis is an inherited disorder that affects the lungs, pancreas, and other organs. It is caused by a genetic mutation that affects the protein responsible for regulating salt and water balance in the body. Symptoms of cystic fibrosis include coughing, frequent lung infections, and difficulty breathing. Treatment options include medication, physiotherapy, and lung transplantation.
Thalassemia is a blood disorder that affects the production of hemoglobin, leading to anemia. It is caused by a genetic mutation in the hemoglobin gene. Symptoms of thalassemia include fatigue, weakness, and shortness of breath. Treatment options include blood transfusions and iron chelation therapy.
Hemophilia is a genetic disorder that affects the blood’s ability to clot. It is caused by a genetic mutation in the genes responsible for blood clotting. Symptoms of hemophilia include excessive bleeding, bruising, and joint pain. Treatment options include clotting factor replacement therapy and gene therapy.
5. Huntington’s Disease
Huntington’s disease is a genetic disorder that affects the brain, leading to the degeneration of nerve cells. It is caused by a genetic mutation in the huntingtin gene. Symptoms of Huntington’s disease include involuntary movements, difficulty speaking, and cognitive impairment. Treatment options include medication and therapy to manage symptoms.
6. Sickle Cell Anaemia
Sickle Cell Anaemia is a hereditary disease that is widespread in Nigeria. It results from a genetic defect in the hemoglobin gene, leading to the production of abnormal hemoglobin.
The disease is prevalent in Nigeria, with 4 to 6 million individuals living with it, which represents one in every four Nigerians having the sickle trait. Annually, Nigeria accounts for 100,000-150,000 newborns living with Sickle Cell Disease, making it the global epicenter of the disease, with about 33% of the global burden of Sickle Cell Disease.
The abnormal hemoglobin causes red blood cells to take on a crescent shape, blocking blood vessels and reducing the body’s oxygen supply. Symptoms of sickle cell anaemia include fatigue, severe pain, and a higher susceptibility to infections.
Unfortunately, there is no cure for the disease. However, treatment options like pain management, blood transfusions, and antibiotics to prevent infections can help manage the symptoms.
Albinism is an inherited disorder that affects the production of melanin, leading to a lack of pigmentation in the skin, hair, and eyes. It is caused by genetic mutations that affect the production of melanin. Symptoms of albinism include light sensitivity, vision problems, and an increased risk of skin cancer. Treatment options include sun protection and regular skin cancer screening.
8. Tay-Sachs Disease
Tay-Sachs disease is a genetic disorder that affects the nervous system, leading to the degeneration of nerve cells. It is caused by a genetic mutation in the HEXA gene. Symptoms of Tay-Sachs disease include developmental delay, loss of motor skills, and seizures. Unfortunately, there is no cure for Tay-Sachs disease, and treatment options focus on managing symptoms.
9. Sickle Cell Trait
Sickle cell trait is a genetic condition where an individual carries one copy of the sickle cell gene. It does not cause sickle cell anemia, but individuals with sickle cell trait can pass the gene to their children. There are usually no symptoms of sickle cell trait, but individuals with the trait may experience complications during high-intensity physical activity.
10. Gaucher Disease
Gaucher disease is an inherited disorder that affects the metabolism of certain lipids, leading to their accumulation in various organs
In conclusion, Inherited diseases can greatly affect an individual’s health and quality of life, but with early detection and appropriate treatment, symptoms can be managed, and overall health can be improved.
It’s crucial for individuals to be aware of the inherited diseases prevalent in their area and consider genetic counseling and testing if they have a family history of these conditions.
This can aid in preventing or reducing the severity of the diseases and enhance the patient’s quality of life.