In Nigeria and all over the world, genetic diseases are caused by alterations or mutations in a person’s DNA.
Although they have a genetic basis, understanding them and the potential triggers is essential for prevention and improved management.
In this blog post, we will explore six genetic diseases in Nigeria, shedding light on their triggers and offering insights into the complexities of these conditions.
1. Albinism
Albinism is a genetic disorder caused by the absence or reduction of melanin in the skin, hair, and eyes.
Melanin is the pigment that gives colour to the skin, eyes and hair. This lack of pigment arises as a result of a gene mutation responsible for producing melanin.
Melanin also plays an important role in protecting the skin from the harmful effects of UV radiation and determining the colour of our eyes and hair.
However, people born with albinism have defective genes that hinder the normal production of melanin, leading to lighter or completely absent pigmentation.
There are different types of albinism, and the severity of the condition can vary. For instance, the one called oculocutaneous albinism affects the eyes, skin, and hair. On the other hand, ocular albinism primarily impacts the eyes.
As a result, people with albinism often have vision problems because melanin is essential for the development of the optic nerve.
It’s important to note that one can inherit albinism when both parents carry a copy of the defective gene.
While albinism doesn’t necessarily affect life expectancy, individuals with this condition may require special care. They will do well to avoid triggers such as sun exposure or use sunscreen and address visual impairments with corrective measures like glasses.
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2. Cystic Fibrosis
Cystic fibrosis (CF) is a genetic disorder that primarily affects the respiratory and digestive systems. Cystic fibrosis is inherited in an autosomal recessive manner.
What this means is that a person needs to inherit a mutated CFTR gene from both parents to develop the disorder.
This condition is caused by mutations in the CFTR gene, which is responsible for producing a protein called cystic fibrosis transmembrane conductance regulator.
This CFTR protein plays a crucial role in regulating the movement of salt and water in and out of cells, especially in the lungs and digestive tract.
People living with cystic fibrosis have defective CFTR protein which leads to the production of thick and sticky mucus in various organs.
In the lungs, this thick mucus clogs airways, making it difficult for people with CF to breathe properly. It also creates an environment where bacteria can thrive, leading to frequent lung infections and inflammation. Over time, these repeated infections can damage lung tissue.
In the digestive system, the thick mucus can block the ducts of the pancreas, preventing digestive enzymes from reaching the small intestine.
This hinders the absorption of nutrients, leading to nutritional deficiencies and poor growth.
While there is no cure for cystic fibrosis, there are assistive advancements in medical treatments and therapies. These advancements have significantly improved the quality of life for individuals with CF.
Thus, helping them manage symptoms and lead more fulfilling lives. Triggers include exposure to certain environmental factors, such as tobacco smoke and air pollution.
These can exacerbate respiratory symptoms in individuals with CF.
3. Sickle Cell Anaemia
Sickle cell anaemia is a genetic disorder that affects the red blood cells. The genetic disorder is caused by mutations in the HBB gene causing the production of abnormal hemoglobin and the characteristic sickle-shaped red blood cells.
The HBB gene provides instructions for making a protein called haemoglobin. Hemoglobin is crucial for carrying oxygen from the lungs to different parts of the body.
However, in people with sickle cell anaemia, the mutated haemoglobin, known as haemoglobin S, causes red blood cells to become stiff, sticky, and misshapen.
Normally, red blood cells are flexible and round, allowing them to flow smoothly through blood vessels. However, in sickle cell anaemia, the cells can take on a crescent or “sickle” shape. Thus, the sickle-shaped cells can get stuck in small blood vessels, causing blockages that lead to pain and potential damage to organs and tissues.
These cells also have a shorter lifespan than normal red blood cells. As a result, there is a chronic shortage of red blood cells, a condition known as anaemia.
Sickle cell anaemia is inherited in an autosomal recessive manner. This means a person needs to inherit a copy of the mutated gene from both parents to develop the condition.
Those who inherit one copy of the mutated gene (from one parent) are known as carriers. They have a recessive sickle cell trait.
Carriers generally do not show symptoms but can pass the gene to their children if they procreate with another carrier or a person with sickle cell anaemia.
Symptoms of sickle cell anaemia can include fatigue, pain, and susceptibility to infections.
Sufferers also experience episodes of severe pain, called “crises,” which can be triggered by factors like stress, dehydration, or low oxygen levels. Organ damage can occur over time, affecting the spleen, liver, kidneys, and other organs.
You can manage sickle-cell anaemia condition by relieving symptoms and preventing complications. Blood transfusions, medications, and bone marrow transplants are other treatment options available for sickle-cell anaemia.
If you have this condition, regular medical check-ups and a healthy lifestyle, including proper hydration and avoiding triggers, are important.
While sickle cell anaemia presents challenges, advancements in medical care and ongoing research offer hope for improved treatments and outcomes.
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4. Down Syndrome
Down syndrome is primarily caused by the presence of an extra copy of chromosome 21, known as trisomy 21.
Our body’s cells contain structures called chromosomes, which carry genes. These genes are the instructions for our body’s development and function.
Humans typically have 23 pairs of chromosomes, for a total of 46 chromosomes. We inherit chromosomes from our parents – 23 from our mother and 23 from our father.
In the case of Down syndrome, also known as Trisomy 21, a person has three copies of chromosome 21 instead of the usual two.
This additional genetic material alters the course of development and causes the traits related to Down syndrome.
The common traits of down syndrome include distinct physical features, such as a flattened facial profile, almond-shaped eyes, and a smaller-than-average stature. People with Down syndrome also experience varying degrees of intellectual disability. However, each individual is unique, and intellectual abilities can range widely.
They may be more prone to certain health issues, such as heart problems, respiratory infections, and digestive issues.
This condition occurs randomly and is not linked to any specific behaviour or environmental factor but the risk increases with the mother’s age.
But this is not absolute as the majority of babies with Down syndrome are born to mothers under 35.
Down syndrome is one of the genetic diseases in Nigeria that can be easily managed if detected early. Early intervention programs, educational support, and healthcare have contributed to helping people with Down syndrome lead fulfilling and productive lives.
5. Huntington’s Disease
Huntington’s disease is one of the genetic diseases or disorders in Nigeria that affects the brain and leads to the gradual deterioration of both mental and physical abilities.
It is caused by a mutation in the huntingtin gene (HTT). One can inherit this disease from an autosomal dominant pattern.
This means that if a person inherits one copy of the mutated gene from either parent, they will develop the disease. The gene is located on chromosome 4. The huntingtin gene provides instructions for making a protein called huntingtin.
People with Huntington’s disease have an excessive repetition of a specific sequence within this gene, leading to the production of a mutated huntingtin protein.
The mutated huntingtin protein causes damage to nerve cells, particularly in an area of the brain called the striatum. This leads to a progressive decline in motor skills, cognitive function, and emotional stability.
Symptoms usually appear in adulthood, typically between the ages of 30 and 50. Initial signs include subtle changes in coordination, mood swings, and cognitive decline.
But as the disease progresses, those with the condition may experience involuntary movements (chorea), difficulty with speech and swallowing, and worsening cognitive decline.
Unfortunately, there is currently no cure for Huntington’s disease.
Treatment protocols aim to manage symptoms and improve the quality of life for affected individuals.
This may involve medications, physical therapy, and supportive care. Since Huntington’s disease is genetic, family members have a risk of inheriting the mutated gene.
Genetic testing can be done to determine whether someone carries the gene.
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6. Angelman Syndrome
Angelman Syndrome is one of the rare genetic diseases in Nigeria that affects the nervous system. This disorder leads to developmental and neurological challenges.
The condition is named after Dr. Harry Angelman, who first described the syndrome in 1965.
The cause of Angelman Syndrome is a genetic mutation or deletion in a specific region of chromosome 15. This alteration affects the UBE3A gene, which is responsible for producing a protein crucial for normal brain function.
People with Angelman Syndrome often exhibit unusual physical and behavioural traits. This trait includes happy and excitable behaviour, with frequent smiling and laughter for no apparent reason.
They may also have a unique facial appearance, such as a wide mouth sparse teeth and a flat head at the back.
Developmental delays are common, affecting speech and motor skills in people battling with Angelman Syndrome. In many cases, those with the condition do not develop functional speech and may use alternative forms of communication.
These communication challenges lead to the reliance on non-verbal forms of expression, such as gestures, signs, or communication devices. You will notice this type of syndrome by a severe intellectual disability and challenges in coordination and movement.
Angelman Syndrome may also come with seizures, which can vary in frequency and severity.
They may exhibit hyperactivity, difficulty sleeping, and a fascination with water.
Early intervention, specialized education programs, and supportive therapies (speech, physical, and occupational therapy) can help manage symptoms and enhance the individual’s overall well-being.
Conclusion
While genetic predisposition plays a central role, environmental factors, lifestyle choices, and other influences can impact the severity and progression of these conditions.
Advances in genetic research continue to uncover new insights. There is hope for improved preventive strategies and personalized treatment approaches for people affected by genetic diseases.
Remember, to treat everyone with understanding, love and care. Kind gestures and support go a long way in making life bearable for caretakers and those with these genetic diseases in Nigeria.
