###NGS Breakthrough at Geetanjali Hospital Udaipur
Rare blood disorder diagnosed, giving new hope to patient
Udaipur — A significant medical breakthrough has been achieved at Geetanjali Hospital, where an advanced genetic testing method, Next Generation Sequencing (NGS), helped diagnose a rare and complex blood disorder, offering renewed hope to a patient.
The case was handled by hematology expert Dr Nitin Chaudhary, who successfully diagnosed a 29-year-old pregnant woman suffering from persistent weakness, jaundice, enlarged spleen, hemolysis, abdominal swelling, along with gallbladder and kidney stones.
Despite undergoing treatment at multiple hospitals for over six months, the exact cause of the illness had remained unclear. Investigations revealed an enlarged liver and spleen, along with critically low hemoglobin levels, requiring repeated blood transfusions.
Through advanced genetic testing using NGS, doctors identified a rare combination of Hereditary Spherocytosis and Gilbert Syndrome. The findings pointed to mutations in the ANK1 gene and polymorphism in the UGT1A1 gene as the underlying causes.
Experts described the case as extremely rare, with only a few such instances reported globally. In India, this is considered among the very few documented cases, and it remains uncommon across Asia as well. Notably, although the condition is typically hereditary, no symptoms were observed in the patient’s parents, making the case even more complex.
Dr. Chaudhary emphasized that timely diagnosis and the use of advanced technologies can significantly improve the management of such complicated conditions. He added that this case highlights not only the progress in medical science but also the importance of awareness regarding rare diseases.
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