Thalassemia: Causes, Symptoms, and Treatment

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What is thalassemia?

Thalassemia is a group of inherited blood disorders, which inhibits the body's ability to produce haemoglobin and red blood cells.
A person with thalassemia will have too few red blood cells, low haemoglobin levels, and the red blood cells may be too small. The impact of this disorder can range from mild, to severe, to life-threatening.
Around 100,000 newborns are delivered each year with severe forms of thalassemia. It is most common in Mediterranean, South Asian, and African ancestry.

How does thalassemia occur?

The human body creates three types of blood cells:

  • red blood cells
  • white blood cells
  • platelets  

Red blood cells contain haemoglobin, an iron-rich protein that distributes oxygen from the lungs to all parts of the body.
Apart from oxygen-haemoglobin also carries carbon dioxide from the body to the lungs, from where it is exhaled.

Hemoglobin contains two kinds of protein chains:

  • alpha globin
  • beta globin

If your protein chains are not normal in any way, or your body does not create enough of these protein chains then production of haemoglobin and red blood cells is affected, which in turn affects the distribution of oxygen in the body.

It is the genes which we inherit that controls how the body produces haemoglobin protein chains. Thalassemias can occur when these genes are abnormal or missing.

There are two primary forms of thalassemia:

  • Alpha Thalassemia: thalassemia occurs if there are problems with some or all of the alpha-globin genes. Normally, each person has four genes for alpha globin. Alpha thalassemia occurs when one or more of the genes that control the making of alpha globins is absent or defective.
    There are four main types of Alpha Thalassemia disease:

    • Alpha Thalassemia Major: which is a very serious disease in which severe anemia begins even before birth. Pregnant women carrying affected fetuses are themselves at risk for serious pregnancy and delivery complications.
    • Alpha Thalassemia Minor:  when children have two missing or mutated genes this condition is called alpha thalassemia minor. Children with this condition may have red blood cells that are smaller than normal and may also have slight anemia.
    • Hemoglobin H disease: If there are three missing or mutated genes it is called hemoglobin H disease. The symptoms can be moderate to severe.
    • Silent Alpha Thalassemia Carrier: If a child is missing one gene or has orne abnormal gene the child is a silent alpha thalassemia carrier. Silent alpha thalassemia carriers show no signs or symptoms of the disease, but can pass thalassemia on to their own children.
  • Beta Thalassemia disease: Beta thalassemia occurs when there are problems with one or both of the beta-globin genes.This is the most common type of thalassemia. In Beta thalassemia, there is decreased production of normal adult haemoglobin (Hb A), which is the predominant type of haemoglobin in our bodies from birth to death.  In people with beta thalassemia, low levels of haemoglobin lead to a lack of oxygen in many parts of the body.Two genes are involved in making the beta haemoglobin chain. You get one from each of your parents. If you inherit:

    • A single mutated gene: you have what is called thalassemia minor you'll have mild anemia, which is a slight lowering of the haemoglobin level in the blood. This situation can very closely resemble that with mild iron-deficiency anemia.
    • Two mutated genes: then you have what is called thalassemia major, or Cooley anemia. Babies with this condition usually have the symptoms of severe anemia in their first year of life. They do not possess the ability to produce normal, adult haemoglobin and constantly suffer from chronic fatigue. A milder form, called thalassemia intermedia, also may occur with two mutated genes.

Who is prone to thalassemia?

Factors that increase your risk of thalassemia include:

  • Family history:  This condition is usually passed from parents to children through mutated haemoglobin genes.You are at an increased risk of having this condition if you have a family history of thalassemia.
  • Certain regional ancestry: Thalassemia is observed to predominantly occur most often among African-Americans and in people of Mediterranean and Southeast Asian ancestry.

What are the causes of thalassemia?

The causes of thalassemia are:

  • inheriting abnormal and mutated genes involved in haemoglobin production from your parents
  • if one of your parents is a carrier for thalassemia, you may become a carrier of the disease yourself, though you will not have any symptoms. You may also develop what is called thalassemia minor in which case you may develop minor symptoms.

What are the complications of thalassemia?

Possible complications of thalassemia include:

  • Excessive Iron: People with thalassemia can get too much iron in their bodies, either from the disease or from frequent blood transfusions.
  • Susceptibility to Infections: People with thalassemia have an increased risk of infection.

In cases of severe thalassemia, the following complications can occur:

  • Complications of heart: such as congestive heart failure and abnormal heart rhythms (arrhythmias)
  • Enlarged spleen: since thalassemia causes the destruction of a large number of red blood cells which in turn causes your spleen to enlarge and work harder than normal.
  • Bone deformities: since thalassemia can make your bone marrow expand
  • Slow growth rate:  of a child and delayed puberty.

What are the symptoms of thalassemia? How are thalassemias diagnosed?

The symptoms of thalassemia can vary. Some of the most common ones include:

  • bone deformities, especially in the face
  • dark urine
  • delayed growth and development
  • excessive tiredness and fatigue
  • yellow or pale skin

Diagnosis


Thalassemias are diagnosed using blood tests. If you notice any symptoms you can first visit your family physician or a general physician who in turn will refer you to a haematologist based your condition.

The haematologist will suggest special haemoglobin tests to diagnose your condition:

  • CBC shows the amount of red blood cells and haemoglobin in the blood.
    People who have thalassemias have fewer healthy red blood cells and less haemoglobin than normal in their blood.
  • A haemoglobin test reveals the problems with the alpha or beta globin protein chains present within the haemoglobin.

What is the treatment for thalassemia?

The treatment of thalassemias depends on the severity of the particular type of thalassemia.

The treatments can include:

  • Blood transfusions
  • Iron chelation therapy which is used to prevent iron overload in the body due to regular blood transfusions
  • Folic acid supplements helps build healthy red blood cells.
  • Blood and marrow stem cell transplant which replaces faulty stem cells in the person suffering from thalassemia, with healthy ones taken from a donor. Stem cells are cells within the bone marrow that help in producing red blood cells and other types of cells.
Would you like to consult a doctor for Thalassemia ?

Questions answered by trusted doctors

Verified User
Hello Doctor Sir/Madam, I wanted to know that me elder sister(32yrs) and her husband (37yrs) both have Thalassemia problem. So, what should be the precaution to take a child ?
Dr. Swati Chitnis
Gynecologist, Mumbai
There are 25% chances that child will have thalassemia major. 50% chances of minor and 25% chances that child will be healthy. I'm assuming that both have thal minor. There is no way to predict this. Mother can undergo testing during pregnancy. Please meet a genetic counsellor to discuss in detail.
Verified User
I m taking medicines for sickle beta thalassemia bt worried about marriage life bcz my parents are forcing n i m worried its spoils our marriage life. I dont know whether it is major r minor. Where can i test n how can i proceed further sir. Please help me
Dr. Chethan R S
General Physician, Bangalore
Hi, Treatment for patients with thalassemia major includes chronic transfusion therapy, iron chelation, splenectomy, allogeneic hematopoietic transplantation, and supportive measures. Emerging therapies include pharmacologic agents that induce fetal hemoglobin and gene therapy aimed at delivering the beta globin gene into cells by a viral vector.
Splenectomy is recommended when the calculated annual transfusion requirement is greater than 200-220 mL RBCs/kg/y with a hematocrit value of 70%.The purpose of splenectomy is to reduce the transfusion requirements and the resultant iron overload. Splenectomy also prevents extramedullary hematopoiesis.
Patients with thalassemia minor may have bilirubin stones in their gallbladder and, if symptomatic, may require treatment.
consult Physician....
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Did you know?

Thalassemia patients in India

In India alone, the number of thalassemias patients is approximately 30 million with nearly 12,000 infants being born every year with a severe haemoglobin disorder.

Thalassemia carriers in India

1 in every 25 Indians is a carrier of thalassemia.

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Home Remedies

Have a Healthy Diet

To cure thalassemia consume a healthy and balanced diet to enhance the immunity of the body. Further foods rich in folic acid can alleviate the signs of thalassemia. Foods such as lentils, egg yolk, dried beans, sweet potato, wholegrain bread, soya products, split peas, nuts, brussel sprouts, bananas and peaches, among others.

Avoid Iron-Rich Food

Avoid all foods which are rich in iron as it can lead to a host of other problems. Iron rich foods include oysters, pork, beans, liver, peanut butter, beef, tofu, flour tortillas, cream of wheat, infant cereal, watermelon, prunes, peas, spinach, raisins, broccoli, and green leafy vegetables all fall under this category.

Prevalence of thalassemia in India

The distribution of the thalassemia gene is not uniform in India and the prevalence is very high among certain communities such as Sindhis and Punjabis from Northern India, Bhanushalis, Kutchis, Lohanas from Gujarat, Mahars, Neo Buddhists, Kolis and Agris from Maharashtra, & Gowdas and Lingayats from Karnataka etc. and certain tribes in the northern, western and eastern parts, with lower incidence in the southern tribes

Two Glasses Of Milk Per Day

Keeps Thalassemia Away Taking two glasses of milk everyday can help cure thalassemia. Other dairy products that you can consume on a regular basis include cheese, yogurt and butter.

Avoid Junk Foods

Avoid all forms of junk foods such as aerated or carbonated drinks and tinned foods as they are high on preservatives. These may interfere with the normal functionality of the body.

Drink Lemon Juice Regularly

Lemonade helps to alleviate the signs of thalassemia, so make it a regular part of your diet.

Include Vitamin D In Your Diet

Vitamin D helps in absorption and assimilation of calcium in the body and therefore is highly efficacious for thalassemia patients. . Some such foods are cod liver oil and soy milk.
Book an appointment with a Haematologist