NEW DELHI: Sickle cell anaemia (SCA) is a genetic blood disorder that affects millions worldwide. Traditionally, managing this condition has been challenging, but recent breakthroughs in medical research have paved the way for innovative treatments.
According to experts, continuous research has seen promising developments in therapies other than traditional bone marrow transplant. Gene therapy, like CRISPR-based approaches, aims to correct the underlying genetic mutation causing the disease. Besides, targeted drugs, such as voxelotor and crizanlizumab, focus on modifying specific aspects of the disease process to alleviate symptoms and improve outcomes.
These advancements bring in more effective and personalised treatments for individuals with sickle cell anaemia."Sickle cell anaemia is a genetic anomaly which is filled by autosomal recessive disorder. Here the parents are the carriers and there is a 25% chance that they will pass it down.
The permanent cure for the disease is bone marrow transplant. The best option is a full match donor. Otherwise, half match transplant can be done with good outcomes," said Dr Vikas Dua, principal director and head, paediatric haematology, haemato oncology and bone marrow transplant, Fortis Memorial Research Institute, Gurugram.Dr Preeti Rastogi, director and HOD, obs and gynae, Medanta, Gurugram, said sickle cell disease poses a significant threat to both maternal and foetal well-being during pregnancy.
Complications may include high risk of pre-eclampsia, preterm labour, growth retardation in the baby and high likelihood of miscarriage.Speaking on new therapeutic options available, Dua said, "We have new therapeutic options like gene therapy. Though they are very expensive, they are new kids on the block.
For now, the most accessible and efficient cure for sickle cell anaemia remains bone marrow transplant." "The cost of bone marrow transplant ranges between Rs 12 lakh - Rs 18 lakh, while the gene therapy may run into crores for a patient," he added.To manage the disease, a multidisciplinary team approach is paramount, beginning with pre-pregnancy counselling.
"Obstetricians play a crucial role in optimising women's health before conception by addressing anaemia, checking fertility status and managing comorbidities associated with the disease. Close supervision during the first trimester is essential, due to increased risk of miscarriage," she said.“Advanced prenatal investigations, such as chorionic villus sampling and DNA analysis, enable us to assess the status of the baby early in gestation.
Later trimester options include immunosynthesis and additional DNA analysis or foetal blood sampling. It's important to note that while the condition itself cannot be prevented, optimising women's health through close supervision and appropriate measures can significantly reduce the risks during pregnancy and labour," Rastogi added.