Public awareness on Thalassemia and Sickle Cell Anemia on the occasion of "International Thalassemia Day- 2023"

1. Thalassemia
&
Sickle Cell Anemia
Dr Pritish Chandra Patra, Assoc. Prof. Hematology, IMS & SUM Hospital, BBSR

2. The basics
The defects-
• Thalassemia
• Sickle cell anemia
• Inheritance & Co-inheritance
(sickle beta, SC, SD, SE etc)
The sufferings-
• Regular BT (Thal)
• Iron overload (Thal)
• Growth and development
• Infection
• Pain crisis (Sickle)
• Post splenectomy sepsis

3. People with Thalassemia & SCD have a lifespan that is shortened by ~20 years

4. Burden in India
• β-Thalassemia is prevalent across the country,
with an average frequency of carriers being 3-
4%.
• A higher frequency has been observed in
certain communities, such as Sindhis,
Punjabis, Gujaratis, Bengalis, Mahars, Kolis,
Saraswats, Lohanas and Gaurs.
• HbS is highly prevalent in the tribal
populations of Southern, Central and Western
states reaching as high as 48% in some
communities.
Hockham, C., Bhatt, S., Colah, R. et al. The spatial epidemiology of sickle-cell anaemia in India. Sci Rep 8,

5. The impact
• It is estimated that about 10000-15000 babies with Thalassemia Major (TM) are born every year.
• The only cure available HSCT.
• However, this can help only a few patients because of
• Cost
• paucity of BMT centres
• non-availability of a suitable HLA matched donor
• Therefore, the mainstay of treatment is
• regular blood transfusions
• iron chelation therapy
• Thus it is a transfusion dependent disorder and places a great burden on healthcare services.
• In India, the cost of transfusing and chelating a 30 kg body weight child for one year was estimated at
Rs. 200,000 for one year in 2008.
• With an estimated birth of 10,000 children with Thalassemia Major every year, and survival for 50
years, the cost of managing 500,000 children (10,000 x 50) works out to Rs.10000 crores, and Rs.100
crores even if only 1% were to survive to 50 years of age.
Prevention and control of Hemoglobinopathies in India, NHM, 2016

6. The challenge
Diagnosis-
• HPLC
• Hb electrophoresis
• Beta globin gene mutation study
Screening-
• By-
• HPLC, Hb electrophoresis
• Where-
• Hospital based or Community based
• When
• Pre-marital
• Pre-conception
• Pre-implantation genetic diagnosis
(IVF)
• Pre/ante-natal

7. WHO listed components of a control program: -
• A strong political will and support
• Adequate finances for staff, equipment and chemicals
• Optimal treatment of those affected
• Carrier screening
• Genetic counselling, premarital or antenatal
• Prenatal diagnosis in couples where both the partners are carriers
• Awareness programme in the community, starting from the schools
• Monitoring of the programme

9. Goal
• Goals for treatment-
• Regular transfusion
• Iron chelation
• Growth & development
• Stem cell transplant
• Gene therapy
• Luspatercept
• Goal of Society-
• disease free children
• disease free future citizen
• a progressive country

10. Thank You