Osteopetrosis (OP) is rare metabolic bone disease characterized by impaired osteoclastic bone resorption. It is inherited by autosomal dominant or recessive mode, with variable penetrance, resulting in variable severity. It can present with cytopenia’s, extramedullary hematopoiesis and neurological features like nerve compression. Hematopoietic stem cell transplant (HSCT) is the curative treatment for severe cases (Malignant Infantile Osteopetrosis- MIOT variant) however literature to support the same is very sparse. We report 3 patients with OP, two of which were successfully treated with HSCT using TTF (Thiotepa Treosulfan Fludarabine) conditioning. HSCT is curative in these patients with better outcome when done early.
Hematopoietic Stem Cell Transplant (HSCT) is increasingly being used as a curative treatment for various malignant and non-malignant conditions. Second malignancies are known long term complication post HSCT. Myeloid malignancies rarely occur post allogenic HSCT. To the best of our knowledge there are no reported case of myeloid malignancy occurring in sickle cell disease (SCD) patient post haploidentical HSCT. We report 2 patients with SCD, who developed Acute Myeloid Leukemia (AML) with monosomy 7 post HSCT. Long-term follow-up is needed post allogenic HSCT even if done for benign conditions like SCD with no prior chemotherapy or malignancy history.