9-yr-old Iraqi girl suffering from rare blood disorder treated

NEW DELHI, June 28:
A nine-year-old Iraqi girl suffering from a rare disease called Diamond Blackfan Anaemia, was transplanted with her sister’s bone marrow, at a private facility here, doctors said on Tuesday.
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 DBA, where her bone marrow was suppressed and she had low hemoglobin, platelets and Total Leukocyte Count (TLC), said doctors at HCMCT Manipal Hospitals in Dwarka.
“A bone marrow transplant was performed by our team to treat her. This was a different case, the little girl was brought to us with a history of weakness and bleeding from the nose and mouth,” said Divya Bansal, the doctor who treated the 9-year-old patient.
“We found that she had congenital bone marrow failure syndrome, called 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 added.
Noting that the case was a challenging one, a hospital statement said that 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,” it added.
Bansal said that the patient had a congenital cause as well as an acquired cause for aplastic anemia.
“Luckily, one of her sisters, who is just three years old, turned out to be a 100 per cent Human Leukocyte Antigen (HLA) match for a bone marrow transplant. However, the difference between donor and recipient weight was very wide. The recipient was around 40 kg and the donor was 12 kg. The protocol is that when you have a major weight difference, the stem cell collection is done in two sittings. But due to the time factor, we had to do it in one sitting only,” she said.
The patient contracted a infection at an early stage of the transplant.
However, the patient was 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, the hospital said. (PTI)