Thalassemia | Symptoms Causes Treatment and more

Thalassemia

Overview

Thalassemia (thal-uh-SEE-mee-uh) is an inherited blood disorder that lowers your hemoglobin levels. Red blood cells carry oxygen via hemoglobin. Thalassemia can cause anemia making you tired.

If you are suffering from mild thalassemia, you may not require treatment. However, more severe cases may need regular transfusions of blood. There are steps you can take to combat fatigue, including making a healthy choice in your diet and regularly exercising.

Symptoms

There are a variety of kinds of Thalassemia. The symptoms and signs that you experience depend on the nature and severity of your condition.

Thalassemia symptoms and signs can be a sign of:

  • Fatigue
  • Weakness
  • Skin that is pale or yellowish
  • Facial bone deformities
  • Slow growth
  • Abdominal swelling
  • Dark urine

Some infants show signs and symptoms of thalassemia before birth, while others are diagnosed in the early two years of life. People with just one affected hemoglobin gene do not suffer from thalassemia-related symptoms.

When should you see the doctor?

Schedule an appointment with your child’s physician to have an examination in the event that your child exhibits any of the symptoms or signs of Thalassemia.

Causes

The cause of thalassemia is mutations in the DNA of cells that produce hemoglobin, a substance found in red blood cells that transports oxygen throughout the body. The thalassemia-related mutations are passed on from parents to their children.

Hemoglobin molecules are composed of chains called beta and alpha chains that are modified by mutations. Thalassemia is a condition where the production of the beta or alpha chains is diminished, which results in beta-thalassemia or alpha-thalassemia.

Alpha-thalassemia severity is determined by the number of genetic mutations inherited from your parents. The more gene mutations the more severe your thalassemia.

When someone has beta-thalassemia, the degree of thalassemia is determined by the part of the hemoglobin molecule affected.

Alpha-thalassemia

The four gene families are responsible for creating an alpha hemoglobin chain. Two of them are inherited from both of your grandparents. As a beneficiary:

  • One gene that has been mutated, you’ll have no symptoms or signs of Thalassemia. You are however carriers of the disease and could transmit it to your children.
  • Two genetic mutations, your thalassemia signs, and symptoms are mild. The condition could be referred to as the alpha-thalassemia trait.
  • Three genes have been altered, your signs and symptoms could range from mild to severe.

Four mutated genes are uncommon and typically cause stillbirth. Children born with this disorder usually die soon after birth or require continuous transfusion treatment. In rare instances, the child born with this condition may be treated using transfusions or the transplantation of stem cells.

Beta-thalassemia

There are two genes involved in creating the beta hemoglobin chain. There is one gene through each one of your parents. If you are a beneficiary:

  • One gene that has been mutated, you’ll have mild symptoms and signs. The condition is known as beta-thalassemia, also known as thalassemia minor.
  • Two genes have been altered, your signs and symptoms could be moderate to severe. The condition is known as thalassemia major or Cooley anemia. Babies who are born carrying two beta hemoglobin genes that are defective are healthy from birth, however, they begin to exhibit symptoms and signs in the first two years of their lives. A milder version, called Thalassemia intermedia, may result from two altered genes.

Risk factors

Some factors which increase the chance of thalassemia comprise:

  • The family history of thalassemia. Thalassemia is passed from parents to children by mutations in hemoglobin genes.
  • Certain ancestral. Most thalassemia cases occur in African Americans, Mediterraneans, and Southeast Asians.

Complications

Potential complications of moderate to severe thalassemia are:

  • iron overload. People with thalassemia are prone to having excessive amounts of iron in their bodies, whether due to the illness or regular blood transfusions. Iron overload can cause harm to your liver, heart, and endocrine system. This comprises hormone-producing glands that control the processes in your body.
  • Disease. People with thalassemia are at a higher risk of developing an infection. This is particularly relevant if you’ve had your lymph nodes removed.

In the case of severe thalassemia there are a variety of complications that can be observed:

  • Bone defects. Thalassemia can make your bone marrow expand which makes your bones wider. This could lead to irregular bone structure, specifically in the skull and face. The expansion of bone marrow also causes bones to become brittle and thin and increases the likelihood of fractured bones.
  • Spleen is large. The spleen helps your body fight infections and remove unwanted substances including damaged or old blood cells. Thalassemia is usually associated with the destruction of a significant amount of blood red cells. The spleen is able to expand and to perform more intensely than usual.
    A spleen that is larger can make anemia more severe and affect the longevity of red blood cells transfused. If your spleen gets too large, your physician may suggest surgery to eliminate it.
  • Slower growth. Anemia can both slow the growth of a child and retard puberty.
  • Heart issues. Congestive heart failure and abnormal heart rhythms may be a sign of severe thalassemia.

Prevention

In the majority of cases, you cannot stop thalassemia. If you’re suffering from thalassemia or carry the gene for thalassemia, think about consulting an expert in genetic counseling in the event that you are planning to become a parent.

There’s a type called assisted reproductive technology diagnostic that tests an embryo in its infancy for genetic changes, and then In vitro fertilization. This could aid parents with thalassemia, or who carry a deficient hemoglobin gene to have healthy children.

The procedure involves taking mature eggs and fertilizing them using the sperm inside a dish in a lab. The embryos are screened for defective genes. Only those with no genetic defect can be implanted in the uterus.

Diagnosis

The majority of children suffering from moderate to severe thalassemia exhibit signs and symptoms in the first two years of their lives. If your physician suspects that your child may have thalassemia in his or her body it is possible to confirm the diagnosis by conducting blood tests.

Blood tests can show the amount in red blood cells as well as variations in size, shape or color. The blood tests are also used for DNA analysis to find mutations in genes.

Testing for prenatal babies

Testing is conducted prior to the birth of a baby to determine whether he or she is suffering from Thalassemia and to determine how severe it is. Tests to detect thalassemia in fetuses include:

  • Chorionic villus sample. Usually done around the 11th week of pregnancy. the test involves removing just a small portion of the placenta to be evaluated.
  • Amniocentesis. Usually done around the 16th week of pregnancy. this test involves looking at the amount of fluid that surrounds the foetus.

 

Treatment

The mild forms of the Thalassemia trait are not treated.

For thalassemia that is severe or moderately severe Treatments could consist of:

  • Blood transfusions are frequent. More severe forms of thalassemia usually need frequent transfusions of blood, perhaps every couple of weeks. As time passes blood transfusions can cause the accumulation of iron in your blood. This can cause damage to the liver, heart as well as other organs.
  • Chelation therapy. This is a treatment to eliminate the excess iron from your blood. Iron may build in the body due to regular transfusions. Certain people suffering from thalassemia who do not receive regular transfusions may also be prone to excessive iron. The removal of excess iron is crucial to your well-being.
    To get rid of iron that is accumulating, you might require an oral medicine, like deferasirox (Exjade, Jadenu) or deferiprone (Ferriprox). Another medication is deferoxamine (Desferal) is administered through a needle.
  • Stem cell transplant. Also called a bone marrow transplant stem cell transplant could be a viable option in certain situations. If a child has severe thalassemias, it may be able to remove the requirement for ongoing blood transfusions and medications to treat the overproduction of iron.
    The procedure involves receiving stem cells infusions from a compatible donor typically an older sibling.

 

Lifestyle and home solutions for home and lifestyle

You can aid in managing your thalassemia by sticking to the treatment program and implementing healthy lifestyle routines.

  • Avoid excessive iron. Unless your doctor suggests it, do not take any supplements or vitamins with iron.
  • Get a balanced diet. Healthy eating can make you feel healthier and increase your energy. Your doctor may also recommend the supplement folic acid to aid in the production of new red blood cells.
    To ensure your bones are strong, ensure that your diet is rich in calcium as well as vitamin D. Consult your physician about the appropriate amounts are for you and if you require an additional supplement.
    Consult your physician about taking additional supplements for example, Folic acid. This is a vitamin B that can help create red blood cells.
  • Keep away from diseases. Wash your hands frequently and avoid people who are sick. This is particularly important when there was a surgery to remove your spleen.
    Also, you’ll need to get a flu vaccine every year and vaccines to avoid meningitis pneumonia, and Hepatitis B. If you notice an illness that causes fever or other symptoms or signs of infection, consult your physician to seek treatment.

Helping to cope and providing support

Dealing with thalassemia, either your own or that of your child isn’t easy. Don’t be afraid to ask for assistance. If you have any questions or need help ask one of the health team.

It is also possible to benefit by joining a support group which will provide helpful information and listening. Talk to a member of your medical team for information on groups within your local area.

Making preparations for your appointment

People who suffer from severe to moderate forms of thalassemia typically are diagnosed in the first two years of their lives. If you’ve observed any of the symptoms and signs associated with thalassemia within your child or infant consult your family physician or pediatric physician. Then, you could receive a referral to a specialist who is specialized in blood disorders (hematologist).

Here are some tips to help you prepare for your appointment.

What you can do

Create a list of:

  • The child’s symptoms, including any that might not be related to the reason you made the appointment, and the date they started
  • Members of the family who have been diagnosed with Thalassemia
  • All medicines, vitamins or additional supplements your child consumes with them, including dosages
  • ASK QUESTIONS to your doctor

To treat thalassemia in a timely manner, some questions you can ask your doctor are:

  • What is the most likely cause for the symptoms of my kid?
  • Are there any other possible causes?
  • What kind of tests are required?
  • What are the available treatments?
  • What are the best treatments you would recommend?
  • Are there any frequent side effects that can be attributed to the various treatments?
  • How can this be treated in conjunction with other health conditions?
  • Do you have any dietary restrictions that you must adhere to? Do you suggest nutritional supplements?
  • Do you have printed materials that you could provide me with? What websites do you recommend?

Don’t be afraid to ask any additional questions you might have.

What can you expect from your physician?

Your doctor may be able to ask you many questions, such as:

  • Do you notice symptoms frequently or are they only present and come and
  • How do you know how severe the symptoms are?
  • Does anything appear to help the symptoms?
  • What does it do to aggravate the symptoms?

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