Healthytalk8 What Is Thalassemia?
Contents
Thalassemia is a genetic disorder of the blood, where the body makes abnormal hemoglobin.
This disorder results in large numbers of RBCs being destroyed, which causes anemia.
Anemia is a condition, where there is a lack of sufficient healthy RBC due to which not enough oxygen reaches the body tissues.
It has symptoms like fatigue, dizziness, body pain, pale skin, and trouble breathing.
People who have thalassemia may have mild or severe anemia. severe anemia is capable of damaging the organs, leading to death.
NOTE: Thalassemia affects about 4.4 out of every 10,000 live births throughout the world.
And in 2015, about 280 million people had thalassemia, of which more than 4 lakh were seriously ill.
Types
There are 2 main types of thalassemia, Alpha, and Beta-thalassemia.
Alpha Thalassemia
It happens when the alpha-globin gene is missing, which causes a reduction or absence of production of alpha-globin chains.
To make alpha-globin, you need to have four genes, two from each parent.
There are 4 main types of alpha thalassemia include:
| Types of Alpha Thalassemia | Signs | causes |
| Hemoglobin H | lack of energy and exercise intolerance | Can cause – jaundice, splenomegaly, lack of proper nutrition |
| Silent carrier | It has no sign, but you can give the damaged gene to your child. | When a person receives one of the genes from a parent |
| Hydrops fetalis | It can occur before birth. In this condition, babies are more likely to be born stillborn or die shortly after birth. | |
| Alpha thalassemia trait | Minor anemia |
Alpha thalassemias were mainly found in people from – Southeast Asia, the Middle East, China, and Africa (3).
Beta Thalassemia
It occurs when the body can’t make the beta-globin, resulting in the total absence of beta chains.
There are 2 main types of beta-thalassemia are:
Beta-Thalassemia Intermedia
It is a mild form. It is major caused by both beta-globin genes. People with thalassemia intermedia don’t need blood transfusions.
In this form, some hemoglobin A is produced.
Beta-Thalassemia Major
Symptoms can be mild to severe. Babies born with two mutated genes and born healthy, but it starts showing after 6 months of life.
It is also known as Cooley anaemia.
Research suggests that about 80 to 90 million people worldwide are carriers of β-thalassemia.
Thalassemia Minor
There are not many symptoms in minor thalassemia, but their haemoglobin is a little low. And it can affect anyone.
In this two-gene is missed.
Beta thalassemia minor
One gene is missing in it (symptoms can be mild to severe) and caused by a heterozygous mutation (In this beta chains are underproduced)
The severity of alpha and beta-thalassemia depends on how many of the four genes for alpha globin or two genes for beta-globin are missing.
Thalassemia major
In this, the formation of hemoglobin is not possible, due to which children become victims of anemia.
If the child has repeated health issues and takes monthly blood transfusions then iron chelator medicine is given.
In India, About 10 to 12k children are born with this type.
Reasons of Thalassemia
The main reason behind this disease is genes. but how?
In normal cases, we get half the gene from both the father and mother.
But in this disorder, a person gets a bad gene that comes from generation to generation.
If a person gets an unhealthy gene from one parent, then the person becomes a victim of half thalassemia.
But if a person gets one bad gene from their mother and one bad gene from their father, then it shows complete thalassemia.
NOTE: If both parents are carriers of thalassemia, then their child has more chance of getting this disease.
Symptoms of Thalassemia
The signs and symptoms have to depend on the type and severity of the condition.
In mild cases symptoms such as:
- Pale skin
- fatigue
- loss of appetite
Serious symptoms such as – In symptoms occur due to low haemoglobin
- milk to severe Headache
- Slow growth: Anemia slows down the growth of a child. Puberty may also be delayed in children with thalassemia (4)
- chest pain
- Jaundice
- dark urine
- Enlarged liver and spleen
- Bone problem
According to WHO, there are around 3% beta-thalassemia carriers and about 4% Hb E/beta-thalassemia carriers in Bangladesh (5).
How do Doctors diagnose It?
Your doctor may perform these tests, some include:
- In a blood test (see the shape of the RBC is normal or abnormal)
- Complete blood count (CBC) reveals anaemia
- Physical examination, which depends on the type and how severe the case is
- DNA test
- A doctor may perform high-performance liquid chromatography (HPLC)
Treatment of Thalassemia
Its treatment depends on what type is it and how serious is this disease.
People with minor anaemia do not require medical care after the initial diagnosis is made.
A person with major thalassemia needs this treatment include:
Blood transfusion
In this, a person has to have a blood transfusion 1 to 2 times a month.
But it also has some side effects like blood transfusion leading to iron collection in the body, which can damage the organs.
Bone marrow transplant
In this healthy blood-forming cells are put into the patient’s bloodstream, where they begin to grow and make healthy RBC, WBC, and platelets.
It can eliminate the need for lifelong blood transfusions (7). but have some risks like chronic immunosuppressive, graft failure, etc (8).
Chelation therapy
This involves removing the iron that gas accumulated in the body.
Due to blood transfusion, iron starts collecting in various parts of the body, which increases the risk of organ damage.
Gene therapy
It is the latest research that can be a solution to many gene-related disorders. Gene therapy is being studied for this disorder (9).
Gene therapy involves changing the genes inside your body’s cells to prevent and treat disease.
Cholecystectomy
In this cholecystectomy is a surgical procedure to remove your gallbladder.
Some other treatments include:
- Splenectomy
- Genome editing techniques
Home-Remedies
These home remedies will help you manage thalassemia. such as:
Diet
However, no diet can cure this disorder, but eating a healthy rich diet can help in managing your thalassemia.
Here is what you eat during thalassemia:
- A plant-based diet, with low fat.
- Vitamin D, and calcium, to prevent possible risk of bone, you may need a supplement, first talk to the doctor.
- Green tea can reduce iron absorption from the intestine tract.
Vitamin C helps in iron excretion from the gut but increases the risk of fatal irregular heartbeat.
A doctor may suggest certain foods like green leafy vegetables, oranges, grapefruit, and lemons that are rich in folate.
Avoid these foods include:
- Avoid bread, junk food
- Fortified cereals, and juices.
Avoid excessive iron-rich foods, because in this disorder, iron is already stored in the body, which can damage your organs.
Complications
Untreated, thalassemia is a major cause of heart, liver, and other organ failures.
Possible complications include:
- More prone to infection
- Jaundice and gallbladder stone
- Heart problems and abnormal heart rhythm may be associated with severe thalassemia (10).
- Thin bone
- A slow growth rate may be seen in babies
- Nerve system complications (11)
However, blood transfusions can help control some symptoms but carry a risk of side effects from too much iron (12)
How To Prevent Thalassemia During pregnancy
In most cases, you cannot prevent thalassemia, but it can be prevented with a few simple tests during pregnancy.
When women become pregnant, then doctors may perform, some tests called electrophoresis or HPLC.
If women are found positive for the beta-t carrier, they should check their partner if both of them are positive for beta, or not.
NOTE: Then the doctor may perform some tests, which will tell whether the fetus in the womb has thalassemia major or not.
If the baby has a thalassemia major, the mother should opt for medical termination and prevent the birth of a child with a thalassemia major.
So it can be prevented by doing a simple test called electrophoresis in the first 3 months of pregnancy.
Learn More – Pregnancy Diet: 8 Super Ideal Foods That Are Eaten During Pregnancy
Down Line
Anaemia has symptoms like fatigue, dizziness, body pain, pale skin, and trouble breathing.
Babies born with two mutated beta haemoglobin genes are usually healthy at birth, but it starts showing after 6 months of life.
Talk to the doctor if you notice any discomfort during pregnancy or your toddler because may be some health condition.
