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Thalassemia Screening :Why You Need to Know About this!

High prevalence of Thalassemia in the Indian subcontinent makes  8th May Thalassemia day specially important.  Thalassemia is a major public health concern in India.

Eastern India shows a high incidence as also Sindhis..Carrier state high and often goes undiagnosed because it’s remains asymptomatic except for  anemia .

Awareness about pre-marital counseling and tests – for all couples should be mandatory to avoid unfortunate problems.High risk of Thalassemia Major babies in couples with carrier state in both parents.

India has the largest number of children with Thalassemia major in the world – about 1 to 1.5 lakhs and almost 42 million carriers of ß (beta) thalassemia trait. About 10,000 -15,000 babies with thalassemia major are born every year.

India accounts for 25% of global,people living with Beta Thalassemia census.

Since there’s a high prevalence of hemoglobinopathies in the eastern part of India, routine premarital screening and genetic counseling is a must.

There’s is upto 19% of Beta thalassemia trait in the Indian population.The Prevalence ranges between 5%to 17% in certain populations.But usually between 3 to 5%

What can be done?

Premarital and pre-natal screening must be made mandatory .

Genetic Counseling

Make testing incentivized.

Screen and educate relatives of all known patients wuth Beta thalassemia and carriers .This will help reach those at risk quickly .

Mandatory screening of all kids at birth.

Affordable tests .

Conclusion:

Transfusion still remain the major modality of treatment. This together with the poor quality of life in the patient and family due to frequent,recurrent transfusions make this a particularly serious problem.

Reference:

https://pubmed.ncbi.nlm.nih.gov/37947120/

https://www.pib.gov.in/PressReleseDetailm.aspx?PRID=1841433

https://journals.innovareacademics.in/index.php/ajpcr/article/download/47258/28122

https://journals.lww.com/jfmpc/fulltext/2024/13040/quality_of_life_and_thalassemia_in_india__a.7.aspx

Jawahirani A, Mamtani M, Das K, Rughwani V, Kulkarni H. Prevalence of ?-thalassaemia in subcastes of Indian Sindhis: Results from a two-phase survey. Public Health 2007;121:193–8

https://www.researchgate.net/publication/375549144_Current_Status_of_b-Thalassemic_Burden_in_India

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