9-year-old Iraqi girl diagnosed with rare blood disorder successfully treated at HCMCT Manipal Hospitals – Rising Kashmir
By daniellenierenberg
Srinagar, June 29: In a recent case, doctors at HCMCT Manipal Hospitals, Dwarka successfully treated a 9-year-old patient from Iraq who was suffering from a rare disease called Diamond Blackfan anemia presenting as aplastic anaemia.
She presented with low hemoglobin, low platelets, and low TLC. The team led by Dr. Divya Bansal successfully performed a bone marrow transplant where the donor was the patients 3-year-old sister.
Diamond-Blackfan anemia (DBA) is a rare blood disorder that occurs when the bone marrow fails to make red blood cells, which are essential for carrying oxygen from the lungs to all the other parts of the body. In this case, the patient had a extremely rare presentation of Diamond Blackfan anemia, where her bone marrow was suppressed and she had low hemoglobin, platelets, and TLC.
This was a challenging case as she was platelet transfusion refractory; no matter how many platelets she was given, her platelet count did not rise, and she was bleeding profusely from the nose and mouth, which was life threatening. Transplant in this condition was particularly challenging, as conditioning therapy, which is given before donor stem cell infusion, further depletes the platelets.
Speaking about this case, Dr. Divya Bansal, Consultant of Clinical Hematology and Bone Marrow Transplant, HCMCT Manipal Hospital, Dwarka said, "This was a different case, the little girl was brought to us with a history of weakness and bleeding from the nose and mouth. We evaluated her further and found that she had congenital bone marrow failure syndrome, diamond blackfan anemia. There was a high PNH clone (paroxysmal nocturnal hemoglobinuria), which is another uncommon condition in the general population and even more so in children. She had a congenital cause as well as an acquired cause for aplastic anemia. Luckily, one of her sisters, who was just 3 years old, turned out to be a 100% HLA match for a bone marrow transplant. However, the difference between donor weight and recipient weight was very wide. The recipient was around 40 kg, and the donor was around 12 kg. Generally, a 10% weight difference is accepted. The protocol is that when you have a major weight difference, then the stem cell collection is done in two settings. But due to the time factor, we had to do it in one sitting only."
The patient contracted a dreadful infection at an early stage of the transplant. However, with the assistance of experienced experts and cutting-edge technology at Manipal Hospitals, the patient was successfully treated, and she was engrafted on day 14 of the transplant, and the chimerism was performed on the 30th day. She is now 100 percent donor chimerism, which means that all the cells in her body are from the donor. This was a success story for us because it was a rare disease with exceedingly rare complications and presentation but was done successfully.
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