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We can prevent thalassemia – Jaago re!

Posted by : Admin, 01 Jun 2011 05:01 PM
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Dr.Sharmila Ghosh,
Haematologic Oncologist
Hinduja Hospital and Medical Research Centre.
Mahim, Mumbai- 400 016

Thalassemia refers to a spectrum of diseases characterized by the reduction or absence in the synthesis of the globin chains. The disease was first noted in the Mediterranean population, and this geographical association explains its naming by Whipple and Bradford in 1932 as Thalassa which in Greek means the sea and Haema is Greek for blood (Whipple and Bradford, 1932).

Estimates show that 1.5 % of the world's population are carriers of β thalassemia and about 50 % of the incidence is from the South East Asian population which mainly includes countries like India, Thailand and Indonesia. Worldwide, approximately 15 million people are estimated to suffer from thalassemic disorders. Reportedly, there are about 240 million carriers of β-thalassemia worldwide, and in India alone, the number is approximately 30 million. The burden of hemoglobinopathies in India is high with an estimate of nearly 12,000 infants being born every year with a severe disorder. These numbers imply that every hour 1 child is born who will suffer with this genetic disorder. The carrier rate for β -thalassemia varies from 1-17 % in India with an average of 3.2 %. This means that on an average 1 in every 25 Indians is a carrier of thalassemia. 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, Neobuddhists, 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. There is a genetic, ethnic and regional diversity of the hemoglobin variants as well as of the genetic mutations in India.

Thalassemia exists in 3 forms:
Thalassemia trait or the asymptomatic carrier stage - The carrier does not exhibit any symptoms and leads an absolutely normal life
Thalassemia intermedia - Genotypically the patient is similar to a thalassemia major but differs phenotypically in that they do not require regular transfusions
Thalassemia major - In ? thalassemia major, the production of ?-globin chains is severely impaired, because both ?-globin genes are mutated.

The severe imbalance of globin chain synthesis results in ineffective erythropoiesis and severe microcytic, hypochromic anemia. Clinical presentation of thalassemia major occurs at 6 months of age. Affected infants fail to thrive and become progressively pale. Feeding problems, diarrhea, irritability, recurrent bouts of fever, and progressive enlargement of the abdomen due to splenomegaly may occur. Patients are treated by lifelong blood transfusion every 15 to 30 days along with iron chelation therapy. The cost of treatment of a 4-year-old thalassemic child is around Rs.90,000-100,000 annually. The only cure available today is bone marrow transplantation which is largely unaffordable to the large majority of the Indian children.

Prevention of thalassemia - the need of the hour.
There is an urgent need for the prenatal diagnosis of thalassemia to combat the burden of hemoglobinopathies in India. Thalassemia is an autosomal recessive disorder which is inherited from parents.

If one (1) parent has beta thalassemia trait and the other parent has normal hemoglobin A, there is a 50 percent (1 in 2) chance with each pregnancy of having a child with beta thalassemia trait. These are the possible outcomes with each pregnancy.

50 percent (1 in 2) chance of having a child with beta thalassemia trait
50 percent (1 in 2) chance of having a child without trait
What if both parents have Beta Thalassemia trait?
If both parents have beta thalassemia trait there is a 25 percent (1 in 4) chance with each pregnancy of having a child with Beta Thalassemia disease. Beta Thalassemia disease is a lifelong illness that can result in serious health problems. These are the possible outcomes with each pregnancy.

25 percent (1 in 4) chance of having a child with beta thalassemia disease
50 percent (1 in 2) chance of having a child with beta thalassemia trait
25 percent (1 in 4) chance of having a child without trait or disease

Thalassemia produces a huge psychological and financial drain on patients and their families.

This dreaded disease can be prevented by extensive screening and counseling programmes. All it takes is a simple blood test to identify silent carriers and counsel them so as to avoid marriages between them.

Who then should be screened for thalassemia?
Pre-marital youth (18-25 years of age)
Antenatal women in their first trimester
Parents and extended family of thalassemia major children
Individuals belonging to the high-risk communities
Any individual with a raised RBC count

In the screening for classical beta thalassemia trait, the first indicator is the blood film with the classical phenotype being the hypochromic microcytic red blood cells and the red cell indices showing a reduced mean corpuscular hemoglobin (MCH) and mean corpuscular volume (MCV). The hallmark is the presence of an elevated level of Hb A2 which can be detected and quantified by the HPLC, the gold standard technology for the screening of beta thalassemia carriers today.

At PD Hinduja Hospital we have the facility for the screening of hemoglobin variants by the Cation-exchange HPLC (CE-HPLC) system which is currently the method of choice for screening hemoglobinopathies and has been established to be superior to electrophoresis. The method is fully automated and allows the quantification of HbA2, HbF, HbA along with that of hemoglobin variants HbS, HbD, HbE, HbC from a single test. The time taken for analysis is only 6 minutes. Strict attention is paid to quality control which ensures the accuracy of results. CE-HPLC can also be used for prenatal screening and prenatal diagnosis of hemoglobinopathies.

CE-HPLC system in Hinduja Lab HPLC generated chromatogram for detection of thalassemia trait

The prevention of thalassemia is a combined effort involving obstetricians, pediatricians backed up by excellent laboratory infrastructure for screening hemoglobinopathies by the HPLC technology. Community awareness programmes will not only help to spread knowledge of the disease but also remove the social stigma associated with thalassemia.
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