Thalassemia: Symptoms, Causes, and Treatment
Definition
What is thalassemia?
Thalassemia or thalassemia is a blood disorder that runs in families. Thalassemia is characterized by the destruction of hemoglobin due to a genetic mutation.
Hemoglobin is the protein in red blood cells (erythrocytes) that carries oxygen throughout the body and transports carbon dioxide back to the lungs for excretion. Hemoglobin also functions to give these blood cells their distinctive red color.
This disease usually requires the sufferer to undergo lifelong treatment, namely by consuming certain drugs and periodic blood transfusions.
How common is this disease?
Thalassemia is a fairly rare disease. According to the National Organization for Rare Disorders website, about 1 in 100,000 people worldwide has the disease and shows symptoms.
In addition, this disease is more common in children of Southeast Asian, African, Middle Eastern, Indian and Mediterranean descent. The spread of disease depending on this race usually follows what is commonly referred to as the “belt thalassemia” or thalassemia belt, which is the distribution following the direction of early human migration in ancient times.
Type
What are the types of thalassemia?
In red blood cells, there are 2 types of chains that make up hemoglobin, namely alpha and beta. Genetic mutations can affect the formation of one of these chains, so that this disease is divided into 2 types, namely alpha and beta.
The following is an explanation of each type of thalassemia:
1. Alpha thalassemia
Under normal conditions, hemoglobin requires 4 healthy genes to form alpha chains. However, if one or more of these 4 genes has a mutation, the body will suffer from alpha thalassemia.
Damage to 1 or 2 alpha chains will cause alpha thalassemia minor (mild). The body may not show any symptoms. However, if the damage occurs in 3 or all four of them, this condition causes alpha thalassemia major (severe).
Babies born with this condition have very little chance of survival.
2. Beta thalassemia
Slightly different from the alpha type, the formation of beta chains in hemoglobin requires 2 healthy genes. If one or both of these genes are damaged, beta thalassemia will occur.
You will have beta minor (mild) thalassemia, if only one of the genes is damaged. If both genes are mutated, you can develop beta thalassemia major or intermedia.
Types of thalassemia based on treatment needs
Apart from being divided according to problematic chains, thalassemia patients can also be divided into 2 types based on the severity and treatment required, namely TDT and NTDT.
1. Transfusion dependent thalassemia (TDT)
As the name implies, TDT patients are required to receive regular blood transfusions. This means that they are dependent on blood transfusion procedures for their entire life.
Without adequate transfusions, sufferers can experience complications and a relatively short life expectancy. TDT usually includes patients with major or severe thalassemia.
2. Non-transfusion dependent thalassemia (NTDT)
In contrast to TDT patients, NTDT patients do not need to perform routine blood transfusions. However, in some cases, the patient still needs other types of treatment, or will need to undergo a blood transfusion from time to time.
NTDT patients generally consist of patients with minor or mild thalassemia and intermedia types.
Signs and symptoms
What are the signs and symptoms of thalassemia?
The symptoms of thalassemia depend on the severity and type you have.
This disease shows signs and symptoms that vary, depending on its type and severity. People who have minor types of thalassemia may not experience any symptoms.
However, generally, the symptoms of thalassemia include:
- Anemia
- Pale
- Get tired more easily
- Headache
However, if your thalassemia is severe or major, some of the signs and symptoms that may appear are:
- The skin and whites of the eyes turn yellow
- Severe fatigue
- Chest pain
- Growth tends to be slow
- Defects or bone deformities, especially in the shape of the face
- Severe anemia
- Hard to breathe
- Enlargement or swelling in the abdomen
- Dark urine
- Decreased appetite
The signs and symptoms above usually appear in the first 2 years after the baby is born. However, it is possible for new symptoms to appear when the sufferer enters childhood or adolescence.
When should I see a doctor?
If you were born to parents with this disease, or have a history of other blood disorders, immediately consult a doctor to find out whether you have a gene mutation or not. The reason is, there are not a few cases of thalassemia that show no signs and symptoms at all.
In addition, if you or your child exhibits the signs and symptoms listed above, do not delay the time to see a doctor. The sooner the disease is detected, the less likely it is to experience other health problems.
Cause
What causes thalassemia?
The cause of thalassemia is a gene mutation that causes defects in one of the chains that make up hemoglobin, namely the alpha and beta chains. The greater the number of mutated genes, the more severe the disease will automatically become.
The cause of gene mutations in thalassemics is heredity, both from one or both parents.
If only one parent is the carrier (carrier), your child is at risk for minor or mild types of thalassemia.
However, if both of your parents have thalassemia traits, your child is at greater risk of developing major or severe thalassemia.
Risk factors
What are the factors that can increase the risk of getting this disease?
Launching from the Mayo Clinic page, several factors that increase the risk of children experiencing thalassemia are as follows:
- Family history
- Certain race
Complications
What are the complications that can be caused by thalassemia?
If you do not get immediate medical help or treatment, you will likely experience other health problems or complications.
Some of the complications of thalassemia that may occur are:
- Excess iron, either from the disease itself or from frequent blood transfusions
- Prone to infections, due to problems with the liver and spleen
- Bones are more brittle and easy to break or break
- Liver disease, such as hepatomegaly and cirrhosis
- Heart disease, such as congestive heart failure
- Enlarged spleen or splenomegaly
- Obstructed puberty
Diagnosis & Treatment
The information provided is not a substitute for medical advice. ALWAYS consult your doctor.
What tests are done to diagnose this disease?
Generally, this disease will be diagnosed by taking a blood sample. From the blood sampling, the doctor and medical team will check the quality of red blood cells and iron levels in the body. In addition, blood tests can also be used to find out the presence of mutated genes in the blood.
Blood tests can be performed on both children and adults. The most common type of test is hemoglobin electrophoresis, which is a test to measure the shape and amount of hemoglobin in the blood.
In addition to children and adults, the diagnosis of thalassemia can also be done to a fetus that is still in the womb.
There are 2 types of tests to check for thalassemia in the fetus in the womb (before the baby is born):
- Chorionic villus sampling. A small piece of the placenta will be removed and analyzed at around week 11 of pregnancy
- Amniocentesis. A sample of the fluid that surrounds the fetus will be taken and analyzed around the 16th week of pregnancy
What are the treatment options for thalassemia?
Treatment for thalassemia depends on the type and severity experienced. However, there are some standard treatments for this condition, such as:
1.Chelation therapy (Chelation therapy)
Thalassemic people generally have excess iron levels in their bodies. Iron that is allowed to accumulate can damage important organs, such as the liver, heart and spleen.
That is why chelation therapy is needed to remove excess iron from the body. In this therapy, the doctor will use one or a combination of drugs to remove excess iron from the body, namely deferiprone, deferoxamine, and deferasirox.
2. Blood transfusions
Red blood cell transfusions are the mainstay of treatment for patients with moderate or severe conditions. This treatment aims to provide the body with healthy red blood cells with normal hemoglobin.
3. Bone marrow transplant
In certain cases, the patient may need a bone marrow transplant. This procedure aims for the body to produce normal red blood cells with new healthy bone marrow.
Lifestyle changes and prevention
What are the lifestyle changes that can be made to overcome this disease?
Apart from receiving medication and blood transfusions, patients are also encouraged to adopt lifestyle changes. This is important so that patients can continue to live a normal life like healthy people.
Here are some lifestyle change tips for thalassemia patients:
1. Reduce iron intake
Iron intake, both from food and supplements, should be reduced. High iron can accumulate in tissues, which can be potentially fatal, especially when you are having a blood transfusion.
2. Eat a healthy diet
By adopting a healthy diet, you will avoid complications caused by this disease.
The diet recommended for thalassemia sufferers must be regulated and adjusted in such a way so that the intake of iron and other nutrients is more balanced.
Can thalassemia be prevented?
Hereditary diseases are generally difficult to prevent. However, you can do prevention in a way premarital check upor pre-marriage checks with your future spouse.
Prenuptial screening (thalassemia screening) has been carried out in several countries and is useful to detect how likely a couple is to have a child with this condition later. By doing this examination, you can plan a pregnancy with your partner appropriately.
If you have any questions, consult your doctor for the best solution to your problem.
Hello Health Group does not provide medical advice, diagnosis or treatment.
Alpha Thalassemia – National Organization for Rare Disorders. (2017). Retrieved August 10, 2021, from https://rarediseases.org/rare-diseases/alpha-thalassemia/
Beta Thalassemia – National Organization for Rare Disorders. (2017). Retrieved August 10, 2021, from https://rarediseases.org/rare-diseases/thalassemia-major/
Thalassemia – Mayo Clinic. (2019). Retrieved August 10, 2021, from https://www.mayoclinic.org/diseases-conditions/thalassemia/symptoms-causes/syc-20354995
Thalassemias – Cleveland Clinic. (2018). Retrieved August 10, 2021, from https://my.clevelandclinic.org/health/diseases/14508-thalassemias
Alpha thalassemia – Genetics Home Reference. (2020). Retrieved August 10, 2021, from https://ghr.nlm.nih.gov/condition/alpha-thalassemia#genes
Beta thalassemia – Genetics Home Reference. (2020). Retrieved August 10, 2021, from https://ghr.nlm.nih.gov/condition/beta-thalassemia#genes
Musallam, KM, Rivella, S., Vichinsky, E., & Rachmilewitz, EA (2013). Non-transfusion-dependent thalassemias. Haematologica, 98 (6), 833–844. https://doi.org/10.3324/haematol.2012.066845
