District wise model to control spread of thalassemia

Genome Foundation takes up a study on this disorder

January 26, 2022 11:31 pm | Updated 11:31 pm IST - HYDERABAD

Thalassemia is a genetic haemoglobin disorder running through families causing shortage of red blood cells and low levels of oxygen in the bloodstream, leading to mild to severe anemia, paleness, fatigue, yellow discoloration of skin (jaundice), and bone problems among the affected.

City-based non-profit organisation Genome Foundation took upa study in collaboration with Thalassemia and Sickle Cell Society called “Micro profiling of thalassemia mutations in Telangana”, over a four-year period sponsored by the government.

In this, it has documented extensive in-depth demographic information on each of the sample 312 thalassemic children taking blood transfusions and periodic medical check-ups and has come out with a method to control and prevent spread of the disease from identified four high risk districts and 15 low risk districts among the targetted populations.

Lead author Dr. V.R. Rao said that the model will help to assess whether thalassemic carrier frequencies or births are increasing or decreasing in the population through screening programmes, encouraging registration of births and a mechanism to modulate knowledge as well as awareness programmes for identification and prevention of thalassemia.

Although thalassemia is widely spread in 31 of 33 districts, high risk districts are Rangareddy, Sangareddy, Mahabubnagar and Khammam. Low risk districts are Suryapet, Nalgonda, Warangal, Nagarkurnool, Siddipet, Jangaon, Mahabubabad, Jogulamba, Rajanna Sircila, Nizambad, Medchal Malkajgiri, Nirmal, Medak and Vikarabad. This is where 48 local endogamous sub-populations live with high disease prevalence and among them - five groups: Sunni (27.2%), Lambadi (20.8%), Madiga (12.5%), Mala (4.5%) and Mudiraj (4.5%) contributed 69.5%, and another 43 groups contributing 30.5% as per the study.

The study says that when 70% cases belong to five local endogamous sub-populations, it would be prudent to concentrate maximum efforts to preventive programmes in those districts where these are densely distributed, to get maximum effect through screening, testing and counselling. Effecting behavioral change is a slow process but has immense impact among high-risk populations, said the authors.

Genome Foundation MD Dr. P.C. Gandhi Kaza thanked the Telangana State Council of Science and Technology (TSCOST) for supporting the grant for the study and emphasised the need to take up more such studies on rare diseases to have more insights into the impact assessment of preventive programmes.

The study “Identification and Development of a High-Risk District Model in the Prevention of β-Thalassemia in Telangana State, India” by V. R. Rao, Gaurav Gupta, Kondaveeti Saroja and Suman Jain was published in ‘Haemoglobin: International journal for hemoglobin research’, said an official release on Tuesday.

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