Consider The Most Common Genetic Diseases : Causes, Symptoms, Diagnosis, Treatments

Genetic disorders can be the result of a genetic disorder such as genetic mutations or additional chromosomes. Most common genetic diseases are incurable and difficult to treat, many of which are hereditary, that is, passed from parents to children. The abnormal effects on one person’s DNA were previously unpredictable. While genetic disorders are not uncommon, there are serious side effects that occur more often than others.

Most Common Genetic Diseases 

1. Down syndrome


3. Cystic fibrosis

4. Tay-Sachs disease

5. Sickle Cell Anemia

1. Down syndrome

Typically, the body of each cell is made up of 23 pairs of chromosomes, but Down syndrome occurs when 21 chromosomes are repeated in all or some of the cells for extra time. Nurses and nurses often perform tests. chromosomal material and other material in the mother’s blood.

This type of test can determine, in great detail, whether a child will develop Down syndrome. When a person has Down syndrome, they can have a very mild and mild delay.  Other symptoms of Down syndrome include increased sensitivity, such as congenital heart failure, muscle cramps, lower body length, and tight vision.

According to the Centers for Disease Control and Prevention (CDC), about one in 700 children born in the United States is diagnosed with Down syndrome. In addition, as the mother ages at birth, the child is more likely to develop Down syndrome.



A person with Down syndrome is a person: their mental and developmental problems can be mild, moderate, or severe. Some people are healthy and others have serious health problems such as heart failure.

Children and adults with Down syndrome have special characteristics. Although not all people with Down syndrome have their own characteristics, some of the most common behaviors include:

  • Little head
  •  It should be short
  • Language that goes to the root
  • Horizontal upper eyelid (eyelid bird)
  •  Unusual shapes or small ears
  • It is a weak muscle
  • Wide and short hand with a single lobe in the palm
  • Short fingers and hands and small feet
  • Too much sunken
  • A small white rice in the colored area of ​​the eye (iris) .It is called a Brushfield stain
  •  Short height
  • Children with Down syndrome may be of average size, but usually grow slowly and tend to be shorter than other children their age.

Mental retardation

Most children with Down syndrome have a cognitive or moderate disability. Language goes backwards and short-term and long-term memory is damaged.

When to see a doctor

Children with Down syndrome are often diagnosed before or at birth. However, if you have any questions about your pregnancy or the growth and development of your baby, talk to your doctor.

Human cells typically have 23 pairs of chromosomes. One chromosome from each pair comes from your father, one from your mother.

It’s Down syndrome. It occurs when cells divide poorly on chromosome 21. Difficult cell division produces whole or whole chromosomes. This additional natural material is responsible for its special shape and problems. In the development of Down syndrome. One of three genetic mutations can cause Down syndrome:

  • Trisomy 21. About 95 percent of the time, Down syndrome is caused by trisomy 21 – 21 people have three chromosomes, instead of the usual two copies, per cell. This is the result of abnormal cell distribution in the development of sperm cells or egg cells.
  • Down mosaic syndrome. In this rare form of Down syndrome, a person has only a few cells with an extra copy of chromosome 21. This simple, irregular reproduction of cells is the result of abnormal division after death.
  • Down Translocation Syndrome. Down syndrome can also occur when a portion of chromosome 21 is attached (migrated) to another chromosome before or after pregnancy. These children have 21 common chromosomes, but also have 21 additional sets of chromosomes linked to other chromosomes.

Nothing is known about the behaviors or environments that cause Down syndrome.

Is it inherited?
In general, Down syndrome is not inherited. This is due to an error in cell division in fetal development.

Translocation Down syndrome can be passed from parent to child. However, about 3-4% of children with Down syndrome have translocation and only a few of them have inherited it from one of their parents.

When a balanced transmission is distributed, the mother or father has a reproductive system reconstructed from chromosome 21 to another chromosome, but no other material. This means that he or she has no symptoms or symptoms of Down syndrome, but may transmit unbalanced translocation in children, causing childhood Down syndrome.

Risk factors
Some parents have a higher risk of having children with Down syndrome. Some risk factors include:

  • Improving the age of the mother. The chances of a woman having a baby with Down Syndrome increase as she gets older, as older eggs are at risk for incorrect chromosome division. Women’s Down syndrome increases their risk of becoming pregnant after the age of 35. However, most children with Down syndrome are born to women under the age of 35 because young women have more babies.
  • Conductors of genetic translocation of Down syndrome. Both men and women can pass on the Down syndrome gene to their children.
  • Being the only child with Down syndrome. Parents with a child with Down syndrome and parents with translocation themselves are at higher risk of having another child with Down syndrome. N

People with Down Syndrome can have a number of complications, some of which are becoming more common. These difficulties may include:

  • Heart damage. Approximately half of children with Down syndrome are born with congenital heart defects. These heart problems can be dangerous and may require surgery as a child.
  • Gastrointestinal (GI) disorders. GI syndromes occur in some children with Down syndrome and can include intestinal, esophageal, tracheal, and anal disorders. Risk of digestive problems such as GI obstruction, headache (gastroesophageal reflux) or celiac disease.
  • Aretina. Due to a lack of immune system function, people with Down syndrome are at risk for developing autoimmune diseases, certain types of cancer, and infectious diseases, such as pneumonia.
  • Sleep. Because of the changes that cause cells and soft bones to block the arteries, children and adults with Down syndrome have a higher risk of disturbing the bond.
  • Obesity. People with Down syndrome are more likely to gain weight than the majority of the population.
  • Spinal problems. Some people with Down syndrome may have an imbalance in the first two vertebrae of the neck (atlantoaxial instability). This condition can increase the risk of injury to the spinal cord in the overweight neck.
  • Leukemia. Young children with Down syndrome are at risk for leukemia.
  • Dementia. People with Down syndrome have a much higher risk – the signs and symptoms can start in the 50s. Having Down syndrome increases your risk of Alzheimer’s disease.
  • Other problems. Down syndrome can be associated with other health conditions such as endocrine problems, dental problems, dementia, ear infections, and hearing and vision problems.

For people with Down syndrome, regular medical care and problem therapy can help maintain a healthy lifestyle when needed.

Life expectancy
Life expectancy has increased significantly in those with Down syndrome. Today, people with Down syndrome can expect to live to be over 60, depending on the severity of their health problems.

There is no way to prevent Down syndrome. If you are at high risk for having a Down Syndrome child or if you already have a baby with Down Syndrome, you can consult with a genetic counselor before you become pregnant.

A genetic counselor can help you understand your chances of having a baby with Down syndrome. It can also explain existing prenatal tests and help explain the pros and cons of the experiment.


Thalassemia is a family of inherited genetic conditions that limit the amount of hemoglobin a person can naturally produce. This condition prevents the flow of oxygen to the whole body. There is a 25 percent chance of developing thalassemia from the parent to the child who inherits the thalassemia.

People who may be the carriers of the false gene responsible for thalassemia are the ancestors of Southeast Asia, India, China, the Middle East, the Mediterranean, and North Africa. With all types of thalassemia, there is severe anemia, which requires special attention, such as blood transfusions and regular chelation treatment.


Symptoms Of Thalassemia
The symptoms of thalassemia may vary. The most common are:

  • bone irritation, especially of the face
  • dark urine
  • delayed growth and development
  • excessive tiredness and fatigue
  • yellow or pale skin

Causes Of Thalassemia

Thalassemia occurs when there is a defect or change in one of the hemoglobin genes. You get this genetic defect from your parents.

If your only parent has thalassemia, you may have a disease called thalassemia. If this happens, you may have no symptoms, but be a carrier. Some people with low -grade thalassemia develop minor symptoms.

If both parents carry thalassemia, you are more likely to get a more severe form of the disease.

Thalassemia is the safest source for people from Asian, Middle Eastern, African and Mediterranean countries such as Greece and Turkey.

Diagnosis of thalassemia

If your doctor is trying to diagnose thalassemia, they will likely take a blood sample. This sample will be sent to a laboratory to test for abnormal hemoglobin. A laboratory technician will also examine the blood under a microscope to see if the red blood cells are abnormal.

Abnormalized red blood cells are a sign of thalassemia. The laboratory technician can perform a test also called hemoglobin electrophoresis. This test characterizes different molecules in red blood cells to identify abnormal types.

Depending on the type and severity of thalassemia physical therapy may help the doctor make a diagnosis. For example, an enlarged skin may suggest to your doctor that you have hemoglobin H.

Options for the treatment of thalassemia
Treatment of thalassemia depends on the type and severity of the disease. Your doctor will give you the treatment that is most appropriate for your case.

Some Of The Treatments Include:

  • blood transfusion
  • bone marrow transplantation
  • medicines and supplements
  • surgery to remove the lump or gallbladder
  • Your doctor will tell you not to take vitamins or iron supplements. This is especially true if you need blood transfusions, because people taking them accumulate extra iron that cannot be easily removed from the body. Iron can accumulate in cells, which can be fatal.

If you are receiving a blood transfusion, you may also need treatment. It contains a chemical reaction that binds to iron and other heavy metals. It helps to remove extra iron from your body.

Thalassemia in children
Of all babies born with thalassemia each year, an estimated 100,000 are born with the malignant form worldwide.

Children may begin to show symptoms of thalassemia within the first two years. Some of the most popular signs are:

  • fatigue
  • jaundice
  • pale skin
  • indigestion
  • slow growth
  • It is important to quickly diagnose thalassemia in children. If you are a reporter or the parents of your children, you should test first.

When left untreated, this disease can cause problems with the liver, heart and spleen. Infectious diseases and heart disease are the most common complications of thalassemia in children.

As adults, children with severe thalassemia often need blood transfusions to remove excess iron from the body.


3. Cystic Fibrosis

Cystic fibrosis is a chronic and genetic disease that causes the patient to produce thick, sticky fibers, blocking the respiratory tract, digestive and reproductive systems. Like thalassemia, the disease is inherited in a 25 percent inheritance when both have the Cystic Fibrosis gene. In the United States, nearly 30,000 people live with Cystic Fibrosis, which often causes more serious health problems.

For example, 95 percent of patients with Cystic Fibrosis in men are missing and the life expectancy of all patients is 33.4 years. Educated nurses can extend patient duration by providing effective treatment strategies that include physical therapy, as well as nutritional and medical supplements.


Respiratory Signs And Symptoms
  • A persistent cough that produces thick mucus (sputum)
  • Wheezing
  • Exercise intolerance
  • Repeated lung infections
  • Inflamed nasal passages or a stuffy nose
  • Recurrent sinusitis

In cystic fibrosis, there is a defect (mutation) in a gene – the regulatory transmissivity of genetic fibrosis (CFTR) – which alters the protein that controls the movement of salts and cells. The result is thick, sticky mucus from the respiratory, digestive, and reproductive systems, as well as increased salinity of sweat.

Many different defects can occur in genes. The type of genetic mutation depends on the severity of the condition.

Children should inherit a copy of each parent’s gene to detect the disease. If children get a single copy, they will not develop cystic fibrosis. However, they will be carriers and can pass the gene on to their offspring.

Risk Factors

Because cystic fibrosis is an inherited disease, it occurs in families and puts family history at risk. Although CF occurs in all breeds, it is most common in whites with ancestors in Northern Europe.


The severity of cystic fibrosis can affect the respiratory, digestive, and genital organs and other organs.

  • Complications Of  The Respiratory System
    Affected respiratory tract (bronchiectasis). Cystic fibrosis is one of the leading causes of bronchiectasis, a disease that causes enlarged lungs that dilate and injure the airways (bronchial tubes). This makes it harder to get air out of the lungs and out of the lungs and the fluid is out of the bronchial tubes.
  • Infectious diseases. Thick fluid in the lungs and sinuses provides a good place to build bacteria and fungi. People with cystic fibrosis can often develop sinusitis, bronchitis, or pneumonia. Antibiotic-resistant and infections that are difficult to treat are common.
  • Nose growth (nasal polyps). Because the nasal cover is swollen and swollen, it can cause smooth, juicy growths (polyps).
  • Cleanses blood (hemoptysis). Bronchiectasis can occur near the blood vessels in the lungs. Combined respiratory damage and infection can cause coughing up blood. There is usually a small amount of blood, but life can be life threatening.
  • Pneumothorax. In this case the air escapes into the space that separates the lungs from the chest wall, and one or all of the lungs fall. This is more common in adults with cystic fibrosis.
  • Pneothothorax can cause sudden pain and shortness of breath. People often have a curly sensation in their chest.
  • Respiratory failure.. Over time, cystic fibrosis can severely damage lung tissue because it no longer moves. Often, lung function gradually increases and can eventually endanger life. Respiratory failure is the most common cause of death.
  • Acute exacerbations. People with cystic fibrosis worsen respiratory symptoms, such as nausea and coughing with shortness of breath. This is called acute exacerbation and requires treatment with antibiotics. Sometimes treatment can be given at home, but may require hospitalization. It is also common in adolescence to lose energy and lose weight.
Complications Of The Digestive System
  • Malnutrition. Thick fluids can block the channels that carry digestive enzymes from the pancreas to the intestines. Without these enzymes, your body can’t absorb protein, fat, or low-fat vitamins, so you can’t get enough nutrients. This can lead to delayed growth, weight loss or inflammation of the pancreas.
  • Diabetes. The pancreas produces insulin, which your body needs to use as sugar. Cystic fibrosis increases the risk of diabetes. About 20% of young people and 40% to 50% of adults with CF have diabetes.
  • Liver disease. Tubes that lead from the liver and bile to the small intestine can be blocked and blocked. This can lead to liver problems such as jaundice, liver disease and cirrhosis – and sometimes central stones.
  • Intestinal obstruction. Intestinal obstruction can occur in people with cystic fibrosis of any age. Intussusception, like a telescope that can break a condition that develops in a part of the intestine next to the intestine.
  • Intestinal obstruction syndrome (DIOS). GOD is a partial or complete blockage of the small intestine that comes out of the large intestine


If you have a close relative and a loved one with cystic fibrosis, you can choose to have a genetic test before giving birth. Laboratory tests on blood samples can help determine the risk of CF infection in children.

If you are already pregnant and a sexual examination shows that your baby may be at risk for cystic fibrosis, your doctor may perform additional tests on the child who is already developing it.

Genetic testing is not for everyone. Before you decide to get tested, you should talk to a genetic counselor about the psychological impact that test results can have.

4. Tay-Sachs disease

The genus known as Tay-Sachs is made up of one in 27 Jews and one in 250 members in general. The disease is caused by a chromosomal defect similar to Down syndrome. Unlike Down syndrome, however, it is the result of a defect found on the Tay-Sachs # 15 chromosome, and this disease is irreversible when found deadly in children. Tay-Sachs disease gradually damages the nervous system, and often results in death within five years.

Adults can also be diagnosed with Tay-Sachs L-Onset Disease, which lowers their level of cognitive ability. Although Tay-Sachsen research can be done through enzyme-related methods or through DNA analysis, there are opportunities to completely avoid the risk. Obstetrics and gynecology techniques can be performed by in vitro embryo testing before being implanted in Tay-Sach’s mother. Only healthy embryos are selected.

What are the symptoms of Tay-Sachsen?

Tay-Sach baby signs
Most babies with Tay-Sachs disease have muscle damage from the uterus (before birth), with symptoms ranging from 3 to 6 months. Progress is rapid, and children can live to be 4 or 5 years old.

Tay-Sach symptoms in children include:

  • seizure
  • muscular stiffness (spasticity)
  • delayed mental and social development
  • slow growth
  • red spot on the macula (an oval-shaped area near the center of the retina in the eye)
  • deafness
  • progressive blindness
  • decreased muscle strength
  • increased startle response
  • paralysis or loss of muscle function
What causes Tay-Sachs?

A gene that does not go to chromosome 15 causes Tay-Sachs disease. This defective gene produces a body that does not make a protein called hexosaminidase A (HEX-A).

In the absence of this protein, a molecule called GM2 ganglioside accumulates in nerve cells in the brain, destroying those cells.

Tay-Sachs disease is inherited, which is transmitted by family. To receive the disease you must receive two copies of the defective vaccine – one from each parent.

If a single parent malfunctions, the baby will become pregnant. They will not inherit the disease, but they can pass it on to children.

What are the potential risks for Tay-Sachs?

The disease is common among Ashkenazi Jews because their families are from Jewish communities in Central or Eastern Europe.

According to the Jewish Genetics Institute, 1 in 30 people in the Ashkenazi Jewish population is a Tay-Sachs correspondent.

There is no way to prevent the disease, but you can do a genetic test to see if you are a carrier or if the fetus is infected.

If you are a carrier or spouse, a genetic test can help you decide whether or not to have children.
How do you see Tay-Sachs?
Prenatal tests, such as chorionic villus sampling (CVS) and amniocentesis, can diagnose Tay-Sachs disease. Genetic testing is usually done when one or both members of a couple have the disease.

CVS is performed between 10 and 13 weeks of pregnancy and is a cell sample taken from the vagina or abdomen.

Amniocentesis is performed between 15 and 20 weeks of pregnancy. Using a needle from the mother’s womb is to extract a sample of fluid around the fetus.

If a child shows Tay-Sachsen symptoms, the doctor may perform a physical examination and complete family history.

Enzyme analysis can be done on the child’s blood or fat samples, and the eye examination may show a red spot on the macula (a small area in the middle of the retina of the eye. One of them).

How is Tay-Sachs treated?

Currently, there is no cure for Tay-Sachs disease. Often, treatment is helpful, focusing on reducing symptoms and improving the quality of life for patients and families. This is also known as palliative care.

5. Sickle Cell Anemia

Sickle Cell disease is a chronic lifelong disease that can be inherited when the Sickle Cell trait was passed on to both children. The characteristics are usually received by people with sub-Saharan, Indian or Mediterranean heritage. Sickle cell disease causes red blood cells to turn into pain in the form of donuts. This causes the cells to come together and enter the bloodstream, causing severe pain and serious complications such as diseases, organ damage and respiratory diseases.

According to the CDC, Sickle Cell Disease affects about 100,000 Americans. In addition, one in 365 African-American babies is born with Sickle Cell Disease. In contrast, one in 16,300 Spanish-American babies is infected. Modern advances in medicine have limited the death rate of Sickle Cell Disease by offering a variety of vaccines and treatment options.


What are the symptoms of cellular disease deficiency?

The symptoms of cellular disease often appear in adolescence. They can appear in 4-month-old babies, but usually appear around 6 months.

Although there are many types of SCD, they all have similar symptoms, which vary in severity. These are:

  • tired or irritable due to anemia
  • fusion, in children
  • beta, from an associated kidney problem.
  • jaundice, in which the eyes and skin are yellow
  • Water and pain in hands and feet
  • is a common disease
  • Pain in the chest, back, arms or legs
Who is at risk for anemia?

Children are at risk for degenerative cell disease if both parents have cell characteristics. A blood test called hemoglobin electrophoresis can also determine what type it may be.

People in areas where malaria is endemic are more likely to be carriers. They are:

  • Africa
  • India
  • Mediterranean
  • Saudi Arabia
What complications can occur with the lack of disease cells?

SCD can cause serious complications that occur when disease cells block vessels in different parts of the body. Painful or destructive blockage is called a pain cell crisis. They can occur in a variety of situations, including:

  • disease
  •  temperature changes
  • stress
  • poor hydration
  • altitude
How is cellular anemia diagnosed?

All newborns in the United States have been diagnosed with inflammatory bowel disease. A fertility test looks for disease cell genes in your amniotic fluid.

In children and adults, one or more of the following methods may also be used to diagnose cell diseases.

Detailed patient history

This condition can cause severe pain in the hands and feet. Patients may have the following:

  • high pain in children
  • anemia
  • increasing peace
  • growth problems
  •  mental illness
  • foot composter
  •  emotional problems

If you want your doctor to consider dehydration if you do not have any of the symptoms listed above.

Blood tests

Numerous blood tests can be used to diagnose SCD:

  • Blood counts can indicate an abnormal Hb level of 6-8 grams per deciliter.
  • Blood images may show RBCs that look like irregularly aligned cells.
  • Mice ride homicide tests look for the presence of Hb S..
How is cell anemia treated?

There are several treatments available for SCD:

  • Dehydration of the solidified fluid helps the red blood cells return to their normal state. Red blood cells tend to change shape and take on suffering when you are dehydrated.
  • Treatment of related or associated infectious diseases is an important part of crisis management because the stress of a disease can cause a cell crisis. Infectious diseases can also cause seizure damage.
  • Blood transfusions improve the transport of essential oxygen and nutrients. Filled red blood cells are removed from the donated blood and given to the patient.
  • Oxygen is added to the mask. It facilitates breathing and improves blood oxygen levels.
  • Pain medication is used to relieve pain in a traumatic crisis. It may cure over-the-counter medications or severe pain like morphine.
  • (.Droxia, Hydra) helps to increase the production of hemoglobin in the fetus. This can reduce the number of transfusions.
    Vaccines can help prevent disease. Patients have a low immune system.
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