Table of contents:
- The characteristics and symptoms of thalassemia
- 1. Anemia
- 2. Too much iron in the body
- 3. Bone problems
- 4. Growth is disrupted
- How do doctors diagnose the characteristics of thalassemia?
- 1. Complete blood count(CBC)
- 2. Hemoglobin test
- 3. Prenatal testing
- 4. Test iron levels
Thalassemia is a blood disorder that causes the hemoglobin (Hb) in red blood cells to not work normally. This genetic disease may show signs and symptoms that vary from person to person. What are the characteristics and symptoms of thalassemia that need to be watched out for?
The characteristics and symptoms of thalassemia
The body of people with thalassemia cannot properly produce hemoglobin in red blood cells. Hemoglobin has the function of spreading oxygen through the bloodstream throughout the body.
This lack of oxygen distribution can affect health conditions, so that certain signs and symptoms appear in people with thalassemia.
The severity of symptoms experienced by each patient may be different, depending on the type of thalassemia suffered. In fact, people with minor types of thalassemia may not feel any signs and symptoms.
Here are the main characteristics that are commonly found in people with thalassemia:
1. Anemia
Almost all people with thalassemia, especially those at moderate and severe levels, will show features that resemble anemia. The severity of anemia also varies, from mild, moderate to severe.
Usually, people who suffer from thalassemia minor will only have mild anemia. Meanwhile, people with thalassemia major will show more severe features of anemia. These signs usually begin to appear when the baby enters the age of 2 years.
The following are symptoms of severe anemia that people with severe or moderate thalassemia will experience:
- Skin and face look pale
- Dizziness or headache
- Decreased appetite
- The body often feels tired
- Hard to breathe
- Dark urine
- Irregular heartbeat
- Nails look brittle
- Inflammation or thrush on the tongue
2. Too much iron in the body
Another characteristic that is commonly found in sufferers of thalassemia is high levels of iron in the body. This condition occurs due to the number of broken red blood cells and the body trying to increase the amount of iron absorbed by the intestines. Not to mention there is an additional effect of iron which is usually received through the blood transfusion process to treat thalassemia.
Excess iron in the body can affect the health of the spleen, heart and liver and cause the following symptoms in people with thalassemia.
- Great fatigue
- Joint pain
- Stomach ache
- Irregular heartbeat
- Decreased sex drive
- Irregular menstruation
- High sugar content
- Jaundice (yellowing of the skin and whites of the eyes)
If not treated immediately, this condition can lead to other diseases, such as heart failure, liver disease, and diabetes.
3. Bone problems
Problems that arise in the bones are also one of the characteristics of thalassemia disease. This condition is generally caused by the bone marrow trying to produce more red blood cells.
Therefore, sometimes people with thalassemia have several parts of the bone with an unnatural shape. These characteristics can be seen in the facial bones and skull.
In addition, excess bone marrow addition can also affect bone strength. Bone sufferers tend to have bones that are more brittle and break easily. Therefore, sufferers are also more susceptible to one of the complications of thalassemia in the form of osteoporosis.
4. Growth is disrupted
Another characteristic that is also commonly found in people with thalassemia is the disruption in growth and development. Thalassemia sufferers tend to have a short stature.
This condition is caused by severe anemia, especially in patients who are already at a severe level. This is described in an article from Cochrane Database of Systematic Reviews.
The excess iron buildup mentioned earlier can also affect the vital organs of the body, such as the liver, heart and pituitary gland. The pituitary gland is an organ that produces growth hormone.
The disruption of the pituitary gland can cause the growth of people with thalassemia to be stunted.
How do doctors diagnose the characteristics of thalassemia?
If you or those closest to you show any of the features of thalassemia that have been mentioned above, consult a doctor immediately. In addition, for those of you who have family members or parents with thalassemia, but you have never felt any symptoms, try to keep getting checked out.
To diagnose this disease, the doctor will take a sample of your blood for examination in the laboratory. The following are some of the screening tests that are carried out to determine the presence of thalassemia:
1. Complete blood count(CBC)
Complete blood count test orcomplete blood count(CBC) is a test done to measure the amount of hemoglobin as well as other blood cells, such as red and white blood cells.
People with the characteristics of thalassemia usually have a lower number of normal red blood cells and hemoglobin, or a form of red blood cells that is smaller than normal.
2. Hemoglobin test
The hemoglobin test also has another name, namely hemoglobin electrophoresis. Quoted from KidsHealth, hemoglobin electrophoresis can measure various types of hemoglobin in the blood.
From this test, the doctor can find out the presence of abnormal hemoglobin, or problems with the production of hemoglobin in the blood.
3. Prenatal testing
If you or your partner have characteristics or carry the gene for thalassemia disease, you are advised to undergo prenatal testing while the baby is still in the womb. This test aims to determine the condition of thalassemia in the fetus.
There are two types of prenatal tests, namely:
- Chorionic villus sampling(CVS)
CVS is a test that can be done at 11 to 14 weeks of pregnancy. The medical team will insert a small needle through the stomach to take a tissue sample from the placenta. The cells in the tissue will be examined to diagnose thalassemia. - Amniocentesis
This test can generally be done from the 15th week of pregnancy. Slightly different from CVS, the medical team will insert a needle through the mother's stomach to collect fluid (amniotic) samples in the uterus. The fluid will then be checked to find out how thalassemia is in the fetus.
4. Test iron levels
In the process of diagnosing thalassemia, the doctor will also recommend a test for iron levels in the body. This is important to determine whether the characteristics of anemia you experience are signs of thalassemia or iron deficiency anemia.
This test is done by measuring several substances in the blood, for example, ferritin levels. Ferritin is a protein that binds to iron in the body. Ferritin levels can show how much iron is bound in your body.
