Thalassemia is an inherited blood disorder in which a person suffers from anaemia due to decreased production and rapid destruction of the red blood cells (RBCs). It is one of the most common genetic disorders in the world. India carries a huge burden of this disease, with more than 10,000 thalassemic children born every year. Statistically, about 3.4% of the Indian population suffers from thalassemia. According to haematology experts, this condition can largely be prevented with increased awareness. Here is all you need to know about the condition.
Overall, there are two kinds of thalassemia, alpha and beta. The form more commonly seen in India is beta-thalassemia.
Alpha thalassemia
Mutation or absence of a gene or genes related to the alpha globin protein leads to alpha thalassemia development. This condition is seen more in people of Chinese and African origin.
Beta thalassemia
Defects in a gene that affects the beta globin protein production results in beta thalassemia. People of Mediterranean origin are most commonly affected with beta thalassemia. It occurs to a lesser extent among Chinese, Asians and African Americans.
Depending on the inherited pattern, the condition can present in two primary forms: Thalassemia major and thalassemia minor.
Thalassemia minor
If the defective gene is inherited from either parent, the child will be thalassemia minor. Individuals with thalassemia minor are only carriers of the disorder. The majority of such individuals remain asymptomatic.
Thalassemia major
If the defective gene is inherited from both the parents then the child will be thalassemia major, a severe form of thalassemia.
Causes
Thalassemia is a genetic condition. There are specific genes that code for haemoglobin, the protein in RBCs responsible for carrying oxygen throughout the body. Beta globin and alpha globin are the two subunits that make up haemoglobin. There are separate genes coding for alpha and beta chains that are self-arranged to form a haemoglobin molecule. The HBB gene gives instructions for producing beta globin, while HBA1 and HBA1 genes are responsible for producing alpha globin. Defects in either of the genes can result in the production of abnormal haemoglobin, which causes RBC destruction. You may inherit this defective gene either from your mother or your father or from both.
Risk factors
Family History: Since thalassemia is inherited, the presence of a mutated or missing gene for the disorder in either one of the parents increases the child’s risk of getting thalassemia.
Ancestry: This disorder is commonly observed in people of African, Greek, Italian, Middle Eastern and South Asian descent.
Thalassemia minor: Those who have inherited the defective gene for the alpha chain of haemoglobin usually do not show any symptoms. That's because the alpha gene defect does not cause any significant problem that interferes with the haemoglobin function. But people who have a defective beta chain of haemoglobin have mild anaemia. These people are usually healthy, fully functional with a normal lifespan. Their haemoglobin can range from entirely normal to 1-2 gm/dL less than normal. The only way to know that someone is a thalassemia minor is by a blood test.
Thalassemia major: People who have inherited the defect for the beta chain of haemoglobin from both the parents suffer from thalassemia major, called haemoglobin H disease or Cooley's anaemia. Such children are completely normal at birth. The symptoms are severe and usually develop within the first two years of life. They include:
Severe thalassemia is diagnosed early in childhood because the signs develop within the first two years of life. A milder form of thalassemia is diagnosed with a complete blood count and haemoglobin test.
Treatment depends on the form of condition the patient suffers. Currently, it is treated with regular blood transfusions and chelation therapy.
Blood transfusion: Blood transfusion is the main treatment given to patients with major thalassemia. The transfusion is required every 2-3 weeks to supplement RBCs and maintain a haemoglobin level of around 9gm/dL or more. Here are ten facts you must know about blood transfusion.
Iron chelation therapy: With repeated blood transfusions, the body's iron load in thalassemic patients increases. This condition is called iron overload, which can create complications and damage other healthy organs, including the heart and liver. To prevent iron overload, medicines are prescribed. Deferoxamine and Deferasirox are common iron-chelators that bind free iron in the blood and cause its elimination through urine.
Supplements: Folic acid supplements must be given to enhance the production of healthy RBCs.
Are there any advanced treatment options available?
Stem cell or Bone Marrow transplant is the only curative option for thalassemia major at this time. Stem cells are the precursors of RBCs present in the bone marrow. In thalassemic patients, the stem cells themselves carry the defect causing the production of abnormal RBCs. But when bone marrow cells from a healthy donor are transplanted into the patient to replace those faulty stem cells, they can make their own healthy RBCs. This treatment has been carried out successfully for thousands of children with thalassemia in India and worldwide. The best potential donor is a brother or sister. A special genetic test called HLA is done to identify a genetic match. The possibility of any one sibling being a complete match. Other means of finding a match is by voluntary donor registries. Most recently, a technique called haploidentical or half match transplant has been developed. This allows parents to be potential donors as well as offering this curative therapy to more and more children.
Several studies are now exploring other possibilities to find a cure for thalassemia. One of the methods involves insertion of normal gene in stem cells of the patients' bone marrow. With the normal gene, the bone marrow cells will produce their own healthy red blood cells with normal haemoglobin.
Prognosis
A normal life expectancy can be expected for people with mild thalassemia. Simultaneously, long-term survival is possible for a patient with moderate or severe thalassemia as long as they follow proper treatment. However, early death between 20 and 30 years of age can occur in a patient with severe thalassemia because of heart failure.
Complications
Iron overload because of repeated blood transfusion in thalassemia patients is one of the major reasons behind most of its complications. Complications of the heart, liver and endocrine are very common among patients with thalassemia major.
It is a genetic condition, so it can be prevented only in future generations. One of the most powerful ways of preventing thalassemia is by creating public awareness and counselling. People who are living with mild thalassemia can prevent their children from carrying the defect with the help of genetic screening. In fact, such individuals should definitely have their partners screened before getting married.
Red Cell Distribution Width (RDW) is the first index to become abnormal in iron deficiency.
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Efforts must be made to motivate gynecologists and pathologies to ensure that everypregnant woman goes through the HbA2 test before 14 weeks of pregnancy.
There are about 40 million carriers of thalassemia in India making it the world's thalassemia capital.
"Would-be parents, who are carriers of the disease, are at a greater risk of having a child with Thalassemia Major."
World Thalassaemia Day: All you need to know about thalassaemia...
Did you know that about 3.4% of Indian population suffers from thalassemia?
Red Cell Distribution Width (RDW) is the first index to become abnormal in iron deficiency.
Like many other conditions, home healthcare has become a precious option for managing thalassemia patients requiring frequent medical attention.
Getting Married? Match Your Blood Type and Not Your Kundli (Horoscope).
Sickle cell disease includes disorders such as sickle anaemia and thalassaemia. Today, on the occasion of World Sickle Cell Day, let us see what this condition is all about.
Thalassemia is an inherited blood disorder that cannot be treated with medication. But stem cell therapy may be able to help. Know if stem cell therapy will work for the disease.
Thalassemia is not preventable it's not true. Here are some common myths and facts about this inherited blood disorder.
Be part of the International Thalassaemia Day 2022 and help transform the lives of millions of people suffering from this disease.
In Phase 3 clinical trial, more than 90 per cent of patients with transfusion-dependent thalassemia no longer needed monthly blood transfusions years after receiving the gene therapy.
You may be preoccupied with your wedding planning and spending a fortune on your wedding attire, food and decor. Along with that, make sure you are enrolling for some health tests too.
World Thalassemia Day 2021: From helping infertile couples have babies, technology has evolved to assist Thalassemia patients with infertility. Here's what you need to know.
Experts say that editing specific blood stem cells can help reverse symptoms of blood disorders, including sickle cell disease, a hereditary condition that makes your red blood cells look like sickles. Read on to know more about this condition.
Half matched bone marrow transplant can be 100 per cent successful now for beta thalassemia patients, says a new research. On the occasion of World Thalassemia Day today, we tell you all about this recent finding and this blood disorder.
Constant blood supply is essential to keep a thalassemia patient alive. As we celebrate World Thalassemia Day today, here is a low-down on blood donation.
World Blood Donor Day 2018: Doctors tell you why blood donation is a noble act and can save many lives.
Planning to donate blood? Dr Nitin Agarwal shares some important tips you should know.
Thalassemia takes a huge toll on the patient and family. Yoga can help.
Bollywood actor Jackie Shroff who is the brand ambassador of Thalassemics India, comes forward to create awareness
All you need to know about this life-threatening condition
Efforts must be made to motivate gynecologists and pathologies to ensure that everypregnant woman goes through the HbA2 test before 14 weeks of pregnancy.
There are about 40 million carriers of thalassemia in India making it the world's thalassemia capital.
"Would-be parents, who are carriers of the disease, are at a greater risk of having a child with Thalassemia Major."
World Thalassaemia Day: All you need to know about thalassaemia...
Did you know that about 3.4% of Indian population suffers from thalassemia?
Thalassemia is the most common genetic condition globally.
PhotosHere is what you should eat or avoid, by Dr Ian Pinto, Consultant Blood and Cancer Specialist, Jaslok Hospital and Research Center.
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