Disease is a term that’s broadly used as a reference to medical conditions or modifications that interrupts the normal state of an individual, internally and externally. Such changes can cause pain, discomfort, dysfunction, distress, psychiatric illness and fatality.
There are many possible reasons why diseases develop. One possibility is through genetics. Family history is often linked to complex diseases such as cancer, cardiovascular health conditions, diabetes and more. An individual will inherit a complete set of genes (segments of DNA) from each parent. From these genes, comes a vast array of genetic variation that contributes to health and illnesses that may have been present in your family from generations before.
According to the a recent study done, Malaysians find the needs to strengthen its role in the
field of genetic tests. Nearly a decade ago, researchers have taken a lot of effort to introduce medical genetic services and now, because of that, genetic services have improved with the availability of genetic counseling, tests and diagnosis.
In spite of that, the awareness in regards to the genetic risk of inheritable disorders in Malaysia are still limited. To fulfill this research gap and educate our readers on the many possible health conditions caused by heredity, we’ve selected a few common inherited health conditions that both the old and younger generation should be aware of so that you can take early intervention.
What is genetic disease?
Genetic disease is an inherited illness caused or developed by the changes in a person’s Deoxyribonucleic Acid (DNA) or in the structure of their chromosomes. To put it in layman’s terms, the DNA sequence of an individual is far from the normal sequence of others. Moreover, the deformity in the DNA can lead to a range of minor to major health conditions. As a matter of fact, it is believed that several common diseases are related to hereditary gene mutations in developing countries including Malaysia.
Furthermore, genetic disorders inherited can be divided into four different types which are:
- Single-gene inheritance
- Multifactorial inheritance
- Chromosome abnormalities
- Mitochondrial inheritance
#1 Cystic Fibrosis
Cystic Fibrosis is an inherited disorder that results from the change in the DNA sequence of only a single gene. This condition is a progressive disease that results in severe yet persistent damages to the respiratory and digestive systems. The most commonly affected organs include:
- Lungs
- Liver
- Intestines
- Pancreas
Cystic fibrosis causes the body to produce abnormally thick and sticky mucus that causes blockage in the pancreatic ducts, intestines and bronchi which often results in lung infection.
Individuals living with this conditions may experience different symptoms as it depends on the severity of the disease. However, some common signs and symptoms are:
- Wheezing
- Greasy stools
- Lung infections
- Loss of appetite
- Swollen abdomen
- Severe constipation
- Inflamed nasal passages
- Persistent cough with thick mucus
Treatment possibilities
Currently, there is no cure for this condition. However, there are a range of treatments available to manage this disease and improve the quality of life among those living with cystic fibrosis.
#2 Sickle-cell anemia
Sickle-cell anemia is another condition that falls under the single-gene inheritance. It is a genetic disease of red blood cells (RBCs) in which there aren’t many healthy blood cells to carry oxygen throughout the body. Apart from that, due to this condition RBCs in the body have an abnormal shape that looks almost like a sickle.
Healthy red blood cells are round, much more flexible and can move easily through the blood vessels. However, these sickle-shaped blood cells are often rigid and get stuck in small blood vessels, therefore, blocking the blood flow. As this continues, it can result in episodes of pain mostly closer to smaller blood vessels such as around the abdomen, chest, joints and sometimes in the bones too.
Apart from that, sickle cell breaks easily and dies, leaving you with lesser red blood cells in your body. Without enough red blood cells in the body, the body does not get the required oxygen, hence resulting in constant tiredness.
Other symptoms may include:
- Fever
- Pale skin
- Jaundice
- Delayed puberty
- Swelling of hands and feet
- Bed-wetting due to kidney problems
- Life-threatening infections such as pneumonia
Treatment possibilities
Stem cell or bone marrow transplants are the only cure for this condition. However, it isn’t done very often. Be that as it may, there are a number of treatments available. Some of it are:
- Blood transfusions to improve oxygen levels in the body.
- Intravenous (IV) fluid is given to help red blood cells return to its normal state.
- Treating underlying or associated infections as part of managing the condition.
#3 Galactosemia
Galactosemia simply means “galactose in the blood”. It is a disorder that affects how the body processes a type of sugar known as galactose that is made up of two sugars, which are galactose and glucose. When combined with glucose, it makes lactose. Some of the common food that has galactose in them are milk, cheese, yogurt and other dairy products.
As a matter of fact, some babies are born with galactosemia, a rare metabolic condition that prevents them from processing galactose that is commonly found in breast milk and baby formula. If left untreated, this condition can be life-threatening to newborn babies.
Galactosemia is a hereditary disorder and both parents must pass it down for their child to develop this condition.
Parents may notice some changes in their newborn within a few days after life and some of it are:
- Refusal to eat
- Jaundice
- Spitting up
- Cataracts
- Vomiting
As the child grows, they might experience a delay in language acquisition, difficulty in motor skills such as standing, kicking, writing, cutting, walking or jumping and neurological impairments.
Treatment possibilities
The only way to treat galactosemia is by maintaining a low galactose based diet. This includes limiting milk and other types of food that contain lactose and galactose.
#4 Thalassemia
Thalassemia is a very common genetic blood disorder that is passed down from parents to their children. This blood disorder develops when your body does not have enough hemoglobin. Hemoglobin is a protein molecule in the red blood cells that carries and provides oxygen to the body.
In addition, if your body does not have enough red blood cells, this could lead to anemia, a condition in which you lack healthy RBCs to carry sufficient oxygen to your body’s tissues.
The symptoms of thalassemia can vary from individuals as not everyone has visible symptoms. Nevertheless, some visible signs that you may want to be aware of includes:
- Fatigue
- Tiredness
- Dark urine
- Yellow or pale skin
- Facial bone deformities
- Delayed in growth and development
People with moderate or severe forms of thalassemia will most probably discover their condition early in life as they might have symptoms of anemia showing up. Notwithstanding that, people with thalassemia minor may only find out through routine blood tests.
Treatment possibilities
Since thalassemia is a genetic disorder, there aren’t many options available to prevent it. However, if both partners have thalassemia and the best way to put an end to this hereditary disorder is by getting In Vitro Fertilisation (IVF) done.
Through IVF, patients will need to undergo Preimplantation Genetic Screening (PGS). This screening is done to check if the cells in embryos have the correct number of chromosomes which is a total of 46 chromosomes–23 from the woman’s egg and the remaining 23 chromosomes from the man’s sperm. Only the best quality embryo will be used when both couples are ready to have their child.
