Gaps in govt policy impedes screening of sickle cell disease

Bengaluru: Absence of a universal antenatal screening policy or central and state guidelines mandating screening for inherited blood disorders like sickle cell disease in Karnataka has led to persistent gaps in prevention efforts.

As of June, the state health department has identified 192 cases of sickle cell anaemia and 2,004 people with sickle cell trait after screening 55,315 tribal people under the age of 40.

This screening initiative took place in districts like Mysuru, Kodagu, Chamarajanagar, Chikkamagaluru, Udupi, Dakshina Kannada, and Uttara Kannada, identified as having a tribal population under the Sickle Cell Elimination Mission.

Dr Shakila N, Deputy Director, and State Nodal Officer of the State Blood Cell, pointed out that all identified cases so far have been concentrated in the first three districts among the seven. Those found with the sickle cell trait or disease are registered and receiving treatment at government health facilities in Karnataka. They have access to free blood transfusions and hydroxyurea medicines even at the primary health centre (PHC) level.

The state health department has set an ambitious target of screening 3.5 lakh people for sickle cell anaemia by 2026. However, screening for haemoglobinopathies, which are inherited blood disorders affecting haemoglobin, is currently conducted only for those with a family history or who are symptomatic.

Sickle cell trait indicates that the person has inherited the sickle-cell gene mutation from one parent. They will present with no clinical manifestation of symptoms but carry the gene. If both parents are carriers, there is a 50% chance their children will inherit the trait and a 25% chance of the children developing a sickle cell disease, note haematologists. In sickle cell crisis, blood flow can be blocked, leading to severe pain in the body.

"The lack of a premarital or prenatal screening for such disorders means that there is often retrospective testing done only if someone comes to the hospital with symptoms," said Dr Manoj Reddy, paediatric haemato-oncologist, and bone marrow transplant physician, BMJH Sankalp India Foundation.

Dr Sitalakshmi Subramanian, a haematopathologist and transfusion medicine specialist at St John's Medical College Hospital, emphasised that early detection of gene mutations, even during pregnancy, allows families to receive counselling about the potential consequences and options for preventing further transmission or accessing available treatments.

Since treatment is lifelong — or expensive in the case of a bone marrow transplant — prenatal screening and counselling are the only ways to prevent transmission of the gene mutation.

Centres at Koppal, Kalaburagi

The proposal to establish an Integrated Centre for Diagnosis and Treatment (ICDT) for Haemoglobinopathies at Koppal and Kalaburagi has been approved by the government.

“The two ICDT centres would greatly help us in screening for such blood disorders. After an expert consultation, the state will plan for a pilot project to screen for such disorders,” said a senior health department official.

Haemoglobinopathy prevalence in Karnataka

Haemophilia: 2,706 cases

Thalassemia: 2,288 cases

Sickle cell trait: 2,004 people

Sickle cell anaemia: 192 cases