Seven year old being treated for rare genetic disease in Bengaluru

Bengaluru: A city doctor is helping a seven- year- old  with a rare disease, Fanconi Anaemia, characterised by a severe deficiency of red and white blood cells and platelets. It, however, took several tests for Dr Sachin S Jadhav, a city haematologist and bone marrow transplant (BMT) specialist, to arrive at the diagnosis.

Once John’s bone marrow was tested it became apparent to the doctor that  he had Fanconi Anaemia and his under- developed marrow was causing deficiency of all types of blood cells in his body. As  bone marrow failure is caused by a variety of factors, Dr Jadhav then insisted on a cytogenetic stress test ,which revealed DNA damage suffered by the boy  was responsible for his condition.

 Genetic testing was the next obvious step and once this was done, he realised that a mutation (a disease-causing change) in a gene called FANCG,  was to blame.

Says Dr Jadhav, "Fanconi Anaemia is a rare genetic disease that mainly affects the bone marrow, and causes decreased production of all types of blood cells. The condition is most often found among two to 15- year- olds. It is an inherited disorder in which both copies of the gene need to be faulty for the disease to manifest."

The mystery of how John came to have this rare disease was solved when the boy’s parents, who  were tested next, were found to be carriers. On more investigation John’s maternal grandfather, paternal grandmother and paternal aunt were also found to be carriers. Once Dr Jadhav understood that an abnormal gene was causing John’s condition, he realised the Anti-Thymocyte Globulin (ATG) therapy would be of no help and the only cure was a bone marrow transplant, and that too using a reduced intensity conditioning chemotherapy regimen as patients with Fanconi Anaemia cannot tolerate high doses of it."He is currently stable and we have planned a bone marrow transplant for him," reveals Dr Jadhav. 

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