What is thalassemia causes and symptoms of thalassemia?
Thalassemia, an inherited blood disorder of low hemoglobin and low red blood cells. Around 100,000 newborns are diagnosed with thalassemia each year having a life expectancy of about 30 years.
In this article let us read in details about what is thalassemia? Causes and symptoms of thalassemia including diagnosis and treatment strategies.
Table of Contents
- What is thalassemia?
- Symptoms of thalassemia
- Causes of thalassemia
- Types of thalassemia
- Thalassemia and anemia
- Diagnosis
- Complications
- Treatments
- Life Expectancy
- Outlook
What is thalassemia?
Thalassemia is an inherited blood disorder in which the body produces less hemoglobin and less red blood cells than normal. In thalassemia, the body produces an abnormal form of hemoglobin. Hemoglobin is the protein molecules in the blood that carries oxygen throughout the body.
At a point, due to the massive destruction of RBCs, it leads to anemia. Anemia is a condition in which the body is unable to produce the required number of red blood cells and leads to low oxygen flow in the body.
It has been found that around 100,000 newborns are delivered with thalassemia each year.
The occurrence of thalassemia happens only when either of the parents carries the disease; it is caused by either genetic mutation or deletion of specific gene fragments.
There are two significant types of thalassemia, which are more serious. In Beta-Thalassemia, the beta-globin genes are positively affected, whereas, in Alpha Thalassemia, one gene of alpha-globin has mutation and abnormality. There is another kind of thalassemia, which is less likely to be grave.
Causes of thalassemia
Mutation or abnormality in any of the genes involving hemoglobin production leads to thalassemia. One can only get affected by thalassemia if their parents are a carrier of it.
One develops thalassemia minor if one of their parents is affected by thalassemia, under this one is less intended to experience any symptoms.
If both parents are the carrier of thalassemia, one can see inherent more severe types of thalassemia.
Thalassemia is most likely to be found in people residing in Asia, Middle East, Africa, Mediterranean countries like Turkey and Greece.
Symptoms of thalassemia
Symptoms of thalassemia begin to start after 6 months in infants, however, the symptoms of thalassemia appear late in childhood or adolescence.
The symptoms of thalassemia vary from type to type. Some of the most common symptoms of thalassemia are
- Dark urine
- Yellowish or pale skin
- Tiredness and excessive fatigue
- Bone deformities mainly in the face
- Late growth and development
- Weakness
- Abdominal swelling
- Rapid heart rate
- Shortness of breath
- Chest pain
- Leg cramps
- Cold hands and feet
- Poor feeding
Types of thalassemia
There are three main types of thalassemia with four subtypes:
First one is beta-thalassemia which includes subtypes major and intermedia. Secondly, alpha thalassemia that includes subtype hemoglobin H and hydrops fetalis and the last one is thalassemia minor.
Let’s understand how each type of thalassemia affects our body:
Thalassemia beta
Thalassemia beta affects your body when your body is unable to produce beta-globin. Two genes each from your parents are required to make beta-globin. There are two major subtypes of this kind of thalassemia: thalassemia major and thalassemia intermedia
- Thalassemia major
It is a serious disorder also called Cooley’s anemia. Symptoms of this type of thalassemia are most likely to show up before a child turns two. Severe Anemia in this condition can be risky. Other signs include fussiness, paleness, frequent infections, and a poor appetite, enlarge organs, failure to thrive, etc. A person affected by thalassemia major requires a regular blood transfusion and medical care.
- Thalassemia intermedia
It is a less severe form of thalassemia that appears because of alteration in both the beta-globin genes. This kind of thalassemia doesn’t require a blood transfusion.
Thalassemia alpha
When the body fails to make alpha-globin, that’s when one forms alpha thalassemia; one needs two pairs of the gene, one each from both the parents. This type of thalassemia also has two serious types: hemoglobin H and hydrops fetalis.
- Hemoglobin H
This type of thalassemia develops when a person is missing three alpha genes or experiences changes in these genes. Hemoglobin H leads to bone issues. The cheeks, forehead, jaw may all overgrow. Hemoglobin H can cause jaundice and significantly enlarged spleen etc.
- Hydrops fetalis
This occurs before birth and is a severe kind of thalassemia. Babies with hydrops fetalis are either stillborn or die shortly after birth. This condition appears when all alpha genes are altered or missing.
Thalassemia minor
In minor cases, two genes are missing, and in beta minor, one gene is missing. One usually doesn’t have any symptoms in minor thalassemia; if they show specific signs, it’s likely to be a case of anemia.
Thalassemia and anemia
Thalassemia can easily lead to anemia. This develops when oxygen count decreases in the body. Red blood cells are responsible for oxygen delivery, which means you don’t have enough oxygen in the blood.
Diagnosis for thalassemia
A blood test is mostly done to detect thalassemia. Some of the tests are
- CBC (Complete blood count) – Range of hemoglobin and size of RBCs
- Reticulocyte Count
- Iron- The cause of anemia to know thalassemia or iron deficiency, in thalassemia, iron deficiency is not the cause.
- Genetic testing- Analysis of DNA
- Prenatal Screening- Amniocentesis or Chorionic villus sampling
Complications of thalassemia
People affected with thalassemia can have many complications including:
- Iron load- Because of blood transfusion
- Enlarged Spleen
- Slowed growth rates
- Bone deformities
- Infection of blood born disease
- Heart problems
Treatments of thalassemia
A person living with thalassemia are recommended to follow various strategies that depend on its type and severity. The treatments of thalassemia include:
- Blood transfusion
- Stem cell transplant
- Bone marrow transplant
- Iron Chelation
- Medication and supplements
- Gene therapy
- Surgery to remove spleen or gallbladder
Life expectancy
It’s challenging to point out actual life expectancy, but thalassemia is a severe illness and can be life-threatening if not treated. The easy way to understand the disease’s seriousness is that the more severe condition, the quicker it turns into fatal.
Still, for an idea, people with beta-thalassemia has a life expectancy of about 30 years and can die by the age of 30. However, researchers are going on to explore genetic testing and gene therapy possibilities to prevent death from thalassemia.
Outlook
The outlook depends upon the type of thalassemia one has; if one is affected by a minor form of thalassemia, then he/she can expect to live normally in everyday life. The best way to have an outlook is to consult your doctor as they can understand it better. They will also help you with treatments, improve the quality of living, and increase life expectancy.
It’s all about what is thalassemia? Causes and symptoms of thalassemia
