Gurgaon, 11th February 2015. One year old Mohd Hakkim Shabhur looked extremely pale when he came to Artemis with his parents from Iraq. He had a high arched palate and ventricular septal defect which is a type of congenital heart disease. He was diagnosed with Diamond Black Fan Anaemia and was receiving monthly blood transfusions in Iraq, since two months of age.
Diamond Black Fan anaemia is a very rare, inherited illness, in which patient’s bone marrow doesn’t make red blood cells and the patient requires monthly blood transfusion. In most of the affected patients, a drug named Prednisolone works. Unfortunately, Shabhur did not respond to it. If a patient has no response to Prednisolone, then a Bone Marrow Transplant is the only way to cure these patients. Bone Marrow/Stem cell transplantation involves replacing of diseased blood-forming cells with another person’s healthy stem cells. Sadly, it may not be always possible to find a complete matched donor. The success of a transplant depends on various reasons like, how close the match is between child and donor and the patient’s age; matched siblings are best however, the chance of a complete tissue match is 25%.
Dr. Vikas Dua, Consultant – Paediatric BMT & Haemato Oncology, Artemis Hospitals, said “Diamond Black Fan anaemia is a rare disorder and if the patient does not respond to the first line therapy, you should consult your Haematologist and opt for a stem cell transplant to cure them of this disorder.”
HLA (Human Leukocyte Antigen) typing of Shabhur and his five year old brother, Ali was done and he was found to be a complete match with the patient. Ali was taken as the stem cell donor for the transplant. A successful Bone Marrow Transplant was performed on Shabhur around four months ago and now the patient is doing extremely well, he doesn’t require blood transfusions and is leading a normal, healthy life as a one year old child should! Parents of Shabhur are very happy with the results and feel that Dr. Vikas Dua, Dr. Rahul Bhargava and Dr. Anirudhh have become a part of their family.
Very few transplants have been performed for this rare congenital disease throughout the world. Diamond Blackfan anaemia is a life-threatening condition that can cause severe anaemia which needs to be supervised by a skillful haematologist.