Mumbai Doctors Diagnose Rare Blood Disorder, Hereditary Elliptocytosis, in 3-Month-Old Baby After Persistent Jaundice

Mumbai: A rare and complex medical case was successfully diagnosed and treated at Narayana Health SRCC Children’s Hospital, Haji Ali, Mumbai, where a 3-month-old infant was found to have Hereditary Elliptocytosis.

Initially presenting as a perplexing diagnostic challenge, the case was meticulously managed by a multidisciplinary team led by Dr Aditya Kulkarni, Consultant - Paediatric Gastroenterology and Hepatology.

Born as the first living child of his parents' third pregnancy, the infant exhibited jaundice from the third day of life. When brought to the hospital at 45 days old, he had persistent jaundice and slightly dark-coloured urine.

Given the medical history, which included maternal pregnancy-associated diabetes mellitus, doctors at Narayana Health SRCC Children’s Hospital initiated an extensive evaluation.

The infant underwent multiple diagnostic tests, including abdominal sonography, liver function tests, and TORCH panel testing to check for congenital infections. Initially suspected to have indirect jaundice due to red blood cell disorders, further HIDA scans and haematological assessments were conducted to rule out liver disease and inherited conditions.

Despite rigorous testing, the root cause remained undetected until Whole Exome Sequencing (WES) revealed a genetic mutation in the SPTA1 gene, confirming the diagnosis of Hereditary Elliptocytosis.

Hereditary Elliptocytosis is a rare red blood cell membrane disorder that leads to premature breakdown of red cells, causing persistent jaundice.

The case was particularly challenging as early reports suggested direct jaundice, which typically points to liver dysfunction rather than a haematological condition. This discrepancy required the team to rely on clinical assessments rather than lab reports alone to arrive at the correct diagnosis.

Once diagnosed, the infant was started on hematinics to boost hemoglobin levels, along with fat-soluble vitamin supplements and MCT oil to aid growth and development. As his hemoglobin had dropped to 6.9, a blood transfusion was necessary to stabilize his condition.

Over a five-day hospital stay, the infant showed improvement, and his parents were counselled about the condition’s fluctuating nature, particularly during illnesses or stress.

Dr Aditya Kulkarni said, "As a paediatric hepatologist, I have encountered numerous cases of neonatal jaundice, each presenting its own diagnostic challenge. Hereditary Elliptocytosis, occurring in approximately 1 in 4,000 individuals, is often difficult to diagnose due to its overlapping symptoms with liver-related jaundice. This particular case was complex, as the infant initially presented with signs mimicking liver dysfunction, necessitating extensive but essential testing before reaching the correct diagnosis. Neonatal jaundice is a diagnostic Pandora’s box with a vast spectrum of potential causes. Differentiating these causes requires meticulous clinical correlation with biochemical findings to minimize unnecessary interventions. This case underscores the importance of a multidisciplinary approach and highlights that not everything that appears yellow is necessarily related to the liver."

Dr Zubin Pereira, Facility Director, Narayana Health SRCC Children’s Hospital, said, "This case exemplifies our commitment to medical excellence and patient-centered care. Successfully diagnosing and treating such a rare condition highlights the expertise, dedication, and collaborative effort of our multidisciplinary team in providing the best possible outcomes for our young patients. It also reinforces the critical role of advanced diagnostics in tackling complex paediatric cases. At Narayana Health SRCC, we strive to combine cutting-edge medical science with compassionate care to ensure every child gets the best start in life."

The parents of the 3-month-old expressed their gratitude, saying, "As parents, we were engulfed in fear and uncertainty, not knowing what the future held for our precious child. However, our path to hope and healing began the moment we met Dr. Aditya Kulkarni. From the very first consultation, Dr. Aditya’s profound expertise and compassionate demeanour reassured us that we were in the best hands. With meticulous care, he conducted a thorough diagnosis, leaving no stone unturned. The treatment plan devised by Dr. Aditya was not only comprehensive, but also tailored to our son’s unique needs. Throughout the treatment process, Narayana Health SRCC staff & doctors were a beacon of support, always available to address our concerns and provide guidance. Their dedication and unwavering commitment to our son’s well-being will forever be cherished."

The case highlights the importance of advanced diagnostic techniques, expert medical judgment, and a multidisciplinary approach in addressing rare paediatric conditions.