Delhi doctors treat 9-yr-old Iraqi girl with rare blood disorder

Doctors here gave a new lease of life to a 9-year-old girl from Iraq who was suffering from a rare disease called Diamond Blackfan anaemia (DBA).

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.

The patient was presented at HCMCT Manipal Hospitals, Dwarka with a suppressed bone marrow, low haemoglobin, low platelets, and low TLC. The doctors performed a bone marrow transplant in which the donor was the patient’s 3-year-old sister.

According to Dr Divya Bansal, Consultant of Clinical Haematology and Bone Marrow Transplant at the hospital, this was a challenging case as the patient had platelet transfusion refractory, meaning 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.

“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 anaemia. 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 anaemia,” Bansal said.

“Luckily, one of her sisters, who was just 3 years old, turned out to be a 100 per cent Human Leukocyte Antigens (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 per cent 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,” she added.

The patient also contracted a dreadful infection at an early stage of the transplant. However, the patient was successfully treated, and all the cells in her body are from the donor, the doctors said.




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