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With improved facility, life expectancy is more creating lots of hope among youth making them more focussed towards the disease awareness. Estimates suggest 1.5% (80-90 million people) of the world's population are carriers of β-Thalassemia and about 5% are carriers of α-Thalassemia and reports suggest that nearly 6 percent of the Indian population are Thalassemic minor i.e. having defect in the gene. 

Thalassemia

It is a hereditary blood disorder i.e. passes from parents to children through the genes they carry. It is caused by the mutation or alteration in the genes that produce hemoglobin, present in red blood cells, which in turn is required to carry oxygen in the body. Most often, it is seen in African Americans and in people of Mediterranean and Southeast Asian descent. Symptoms for this disorder depends on the type of thalassemia which vary from mild to severe anemia. Patients having thalassemia disorder will have to go repeated blood transfusions as they cannot produce much haemoglobin required in the body. These transfusion causes iron overloading in the body, for which chelation therapy is given to avoid any fatal overcome.

Different types of Thalassemia are based upon the mutations on hemoglobin chains which is made up of two alpha and two beta chains. Mutation in these chains results in lower production of either alpha or beta chain, causing alpha or beta thalassemia. 

Types of Thalassemia

Depending upon the severity of the disease, few other terms such as carrier, minor , intermedia and major have also been used. A person who carry trait (minor form) i.e. alpha Thalassemia trait or beta Thalassemia trait, experience no or mild symptoms but this trait can pass from parents to children and can become major. Proper treatment is required in major form of this disorder. 

Alpha-Thalassemia- In this, there is decrease in the amount of alpha chains formations resulting in less number of normal haemoglobin formed, causing red blood cells damage. Severity in alpha-thalassemia, depends upon the number of mutations on HBA1 and HBA2 genes, these mutations pass from parents to children. The severity of disease depends on number of mutated genes, it also depends on how many mutated genes are transferred from parents to children.

β (Beta) Thalassemia- β -thalassemia is a genetic disease caused by mutations in the β-chains of hemoglobin, result in partial or complete deficiency of β-chain, causing mild to severe anemia in individuals. This disorder has been seen in a higher frequency in certain communities like Bengalis, Gaurs, Gujratis, Kolis, Sindhis, Punjabis and Saraswats. It is estimated that every year about 10000-15000 babies with Thalassemia Major (TM) are born. In beta-thalassemia, the severity of thalassemia depends on the nature of mutations i.e. which part of the hemoglobin molecule is affected. Two genes are involved in making the beta hemoglobin chain, each of them is transferred from parents. If you receive:

This Figure shows that both parents have one mutated β-globin gene i.e. both are β-thalassemia trait, showing no symptoms but can transfer to next generation.

• There is 25% of chance of inheriting two normal genes

• There is 50 % of chance of  inheriting one mutated gene and one normal gene (k/as beta thalassemia trait)

• There is 25 %  of chance of inheriting two mutated genes i.e. both the genes carry the mutation (k/as Thalassemia major).

Disease Management and Available Treatment

Standard treatment options are available for the thalassemia like blood transfusion and iron chelation, which is a lifelong therapy while bone marrow transplant is the only curative measure. Both the options are high cost demanding, result in a constant family burden. The other options includes:

• Monitoring of complications that occurs due to the disease and the treatment they are getting

• Management of complication occurs (cardiac, endocrine, skeletal etc.) 

• Hematopoietic stem cell transplant/ Bone marrow transplantation (BMT) 

• Psychological support should be given

1. Blood transfusion- is the process of transfusing red blood cell every 3-4 months in thalassemia patients with moderate to severe cases and every 2-4 weeks in β-thalassemia major, that help in restoring normal hemoglobin and red blood cell. Occasional transfusions may be required in  hemoglobin H disease or beta thalassemia intermedia. The blood transfusions lead to increase iron level in the body, which can be reduced using Iron chelators. These chelators also prevent organs like heart and liver from getting damage due to iron overloading. Monitoring of  ferritin level and liver iron concentration are also advised for such patients. 

One unit of packed red blood cells contains 200 to 250 mg of iron and each pRBC contains 1.16 mg of iron in one millilitre. Those patients receiving 15-30 units of pRBC units per year, receive around 3-6 grams of elemental iron which causes iron overloading in the body causing serious problem amongst patients who are multi transfused.

2. Iron chelators and treatment options: Iron chelators comes as pills or injection form, generally starts after one year of blood transfusion when patient complains about its symptoms. The dose given depends upon the age of the patient. In United States, three FDA-approved iron chelators: deferoxamine (Desferal), deferasirox (Exjade), and deferiprone (L1) are available in the market.

Iron Chelator Properties

The only curative and effective treatment for thalassemia is allogeneic hematopoietic stem cell transplantation ( HSCT). This can be done by having compatible donor i.e. the donor should have the same types of proteins, called human leukocyte antigens (HLA), on the surface of their cells. Siblings are reported as best compatible donor whether normal or carrier but those lacking a sibling face the problem of compatibility. Since cost is too high and high risk of transplant-related toxicity was reported, it is not generally recommended for those having mild or moderate thalassemia but recommended for thalassemia major.

Can Thalassemia patients marry?

Several questions running in the mind whether patients of this disorder have the right to marry and expect for long survival and healthy life?

So here the answer is “YES”.

They have the right to expect good quality of life and long survival including marriage also.

Celebrities like Amitabh Bachchan and Amisha Patel, diagnosed with Thalassemic minor are also leading normal life. 

The only thing which needs to keep in mind is to follow expert’s advice before planning for marriage or children.

Children Planning: It is said that those who are carrier should avoid children planning as there is 75% chance of passing off the disease to next generation and if either of the parent is Thalassemia and understand about their Thalassemia status and get some thalassemia test especially for those with thalassemia trait or carrier or pre-natal test: Chorionic Villus Sampling (CVS) or choose amniocentesis test, Fetal blood sampling (Cordocentesis).

Awareness and Counselling : Pre-marital or antenatal screening and genetic counselling plays very important role in implementation of prevention and screening programs.

Many countries like Iran, has reduced number of birth defects in babies and also showed well improvements in prevention of this disorder. Another country Cyprus, where this disease was highly prevalent, but various awareness campaign including government involvement had controlled this disease and brought down the birth rate from the thalassemia parents. Canada is the another country, where voluntary screening programme in high schools, 1980 was started for thalassemia, which led to  95% decrease in the prevalence of β -thalassemia.

There are number of centres available in India also, which provides pre-marital diagnosis facility at a low cost or freely available for the poor. Such centres also introduce quality control programs for them, reducing disease burden, enables them to take care lifelong for their better survival. Several government and non-government organisations also supported to facilitate the treatment to the patients suffering from this disorder.

Those who are Thalassemic minor should keep informed that they should not marry Thalassemic minor as result end up with Thalassemic major in the progeny.