Age 7 years, Sideroblastic Anemia
Contributed By: Dr. Imtenan Sharif
Amina, resident of Sahiwal was noted to have pallor since infancy. She, however, received no blood transfusion till she was 7 years old. She received her first RCC transfusion in Jun 2013. A bone marrow biopsy was done to find out the cause of anemia which demonstrated ringed sideroblasts; findings were consistent with Sideroblastic Anemia. The patient was referred to our hospital for prospects of bone marrow transplant.
As blood transfusion requirement grew, she was put on oral iron chelation therapy. Amina’s was matched with her elder sister Javeria. The family was counseled regarding allogeneic bone marrow transplant and the patient was put on waiting list. Pre-transplant workup of the patient and the donor was started in Feb 2015. By then Amina had received 22 RCC. On examination liver was palpable 3 cm below costal margin. Serum ferritin was 440 ng/ml. There e was no ABO mismatch.
For transplant, Amina was given 150 modified long protocol of Flu 16 160 Bu and Cy. She tolerated conditioning well. Bone marrow was harvested from her donor (sister) on 24 Apr 2015 and transfused through central venous line the same day. Cyclosporine and short methotrexate were given as prophylaxis for graft versus host disease.
Post-transplant period was unremarkable. Neutrophil engraftment was achieved on D+14 and platelet engraftment on D+26. The patient was discharged to home after her neutrophil recovery and was advised weekly follow up in OPD.
In Oct 2015, Amina reported with 2-day history of pain abdomen along with 3 episodes of vomiting and constipation. She had tense abdomen with generalized tenderness. S. Amylase and S. Lipase were raised to 1370 u/l and 1127, respectively. A diagnosis of Acute Pancreatitis secondary to cyclosporine was made and patient was managed conservatively. The patient recovered, her pain subsided and laboratory findings returned to normal and she was discharged after 2 weeks in hospital.
Amina is now off immunosuppression, her STR for donor chimerism was more than 90% and lymphocyte subset analysis demonstrated good immune reconstitution. She has received her post-transplant vaccination as per protocol.
Amina has rejoined her school in class 6 and is living a normal life free from blood transfusions. She is a BMT survivor