Overview | Fact | Types | Causes | Symptoms | Risks Factors | Complications | Diagnosis | Treatment | Prevention
Have you ever heard about thalassemia disorder? Well, it’s not a surprising thing, if not. Because it is still considered a rare disease, at least in India. But don’t worry, as you will come to know everything you need to, once you read the article further. So let’s begin your thalassemia guide.
What if thalassemia?
Thalassemia is an inherited blood disorder that affects the body’s ability to produce hemoglobin and red blood cells abnormally and causes your body to have or produce less hemoglobin than normal level. If you don’t know, hemoglobin is an important element that enables red blood cells to carry oxygen and supply it throughout the body. Thalassemia can lead to anemia, due to excessive destruction of red blood cells, and fatigue. Its impact can be mild, severe, or even life-threatening sometimes.
Although, it is an inherited disorder, which means you have the risk of getting thalassemia only if one of your parents is also affected by it, otherwise you are safe.
In the case of mild thalassemia, you might not need any kind of treatment but if your thalassemia is severe, then you might require regular blood transfusions.
Fact: There are less than 1 million cases of thalassemia each year, in India. So it is considered a rare disorder.
Types of thalassemia:
The four alpha-globin and two beta-globin proteins chain together make hemoglobin. There are broadly three types of thalassemia — alpha, beta, and minor.
- Alpha thalassemia: In this, the hemoglobin does not or unable to produce enough amount of alpha protein. Four genes, two from each chromosome 16, are needed to form alpha–globin protein chains. Thalassemia occurs when any one of these four genes is missing or damaged, and the severity of thalassemia is depends on the number of missing genes.
- One mutated gene: This type is called alpha thalassemia minima, may he because in this, the patient has no symptoms but can be the carrier and can pass to his/her child.
- Two mutated genes: In this, the patient has two faulty genes and can experience mild anemia. This is called alpha thalassemia minor also.
- Three mutated genes: If you have three damaged genes then you must be suffering from chronic anemia, called hemoglobin H disease. That’s why you need blood transfusion throughout your life.
- Four mutated genes: Due to four faulty genes, you have to suffer hydrops fetalis, a severe health condition in which fluid accumulation takes place in parts of the fetus’ body.
Due to four mutated genes, a fetus is unable to produce the normal or required amount of hemoglobin, and thus, unlikely to survive even with transfusion. As described, this is the most severe form of alpha thalassemia.
- Beta thalassemia :
A person requires two globin genes, one from each parent, to make beta-globin chains. Beta thalassemia occurs when one or more genes are mutated or faulty.
- One mutated gene: This condition, in which one gene is faulty, is called beta-thalassemia minor.
- Two mutated genes: This is known as thalassemia major, and can have moderate to severe symptoms. Also considered as Colley’s anemia.
- Mild thalassemia: It doesn’t show any symptoms, hence one doesn’t need medical treatment if get mild thalassemia.
Cause of thalassemia:
Our bone marrow uses the iron obtained from our consumed food to make hemoglobin. This hemoglobin then transports oxygen to the blood cells throughout our body.
In the case of thalassemia, the bone marrow is unable to produce enough amount of hemoglobin, and also creates mutations in the DNA of hemoglobin producing cells, due to which our red blood cells lack oxygen. This results in anemia and fatigue.
Due to reduced production of alpha and beta chains of hemoglobin, results in alpha–thalassemia or beta-thalassemia.
In alpha–thalassemia, the more mutated genes you inherit from your parents, the more severe your thalassemia is.
In beta-thalassemia, the severity of the thalassemia depends on the affected part of the hemoglobin.
Symptoms of thalassemia depend upon the type and criticality of your condition. Some people don’t have any symptoms, some show symptoms just after birth or some within 2 years of the birth. Some common symptoms are –
- Dizziness and faintness
- Chest pain
- Dark urine
- Leg cramps
- Abdominal swelling
- Cold hands and feet
- Defects in facial bones
- Fast heart rate
- Slow growth
- Poor feeding
- Pale skin
- High risk of getting infected
- Excessive iron in the blood
All the symptoms will be visible only after 6 months of birth.
Risk factors and complications:
- Organ failure
- Enlarged spleen
- Family History
- Bone deformities
- Heart problems
- Slow development
- Underactive or overactive thyroid
Mostly, children receive a diagnosis after 2 years of birth. Some people don’t even know about their thalassemia their whole life, and some discover it after getting to know that their child has inherited thalassemia. The first step in the diagnosis of thalassemia is a blood sample. Your blood sample taken by your healthcare provider will be examined to check for anemia abnormal hemoglobin level and the shape of the cells. The oddly shaped cells indicate the thalassemia disorder.
To check the shape of the cells, a hemoglobin electrophoresis test can also be ordered. Along with these, a physical examination by a doctor is a must. Some other tests are —
- Complete blood count (CBC)
- Reticulocyte count
- Iron deficiency
- Genetic test
- Prenatal testing
The treatment depends on the type and severity of thalassemia you have. Still, some treatments can be:
- Blood transfusion
- Bone marrow transplant
- Medications and supplements
- Surgery to remove the enlarged spleen or gall bladder.
- Chelation therapy ( to remove extra iron from the blood, followed by blood transfusion and solid acid supplements)
- Gene therapy
Mostly, prevention is not possible in the case of thalassemia because it is an inherited disorder. If a couple with thalassemia wants to have a healthy child without thalassemia disorder, they can opt for the assisted reproductive technology diagnosis.
A person with thalassemia can have a normal life expectancy. However, if the person has beta-thalassemia, and heart disease then he/she have to suffer more before the age of 30.