Familial myelodysplastic syndrome occurring at a young age is a very rare childhood haematological malignancy. Two siblings, aged three and 18 years, from a consanguineous marriage, presented with pancytopenia and was subsequently diagnosed to have myelodysplastic syndrome. Both remained clinically stable throughout the illness. Splenectomy appeared to have fully corrected the cytopenia in one ...

Long-term complications and associated conditions of type 1 Gaucher Disease (GD) can include splenectomy, bone complications, pulmonary hypertension, Parkinson disease and malignancies. Enzyme replacement therapy (ERT) reverses cytopenia and reduces organomegaly. To study the effects of ERT on long-term complications and associated conditions, the course of Gaucher disease was modelled.

A 6-year-old boy presented with microangiopathic hemolytic anemia, thrombo-cytopenia, altered sensorium and intractable bleeding. A diagnosis of thrombotic thrombocytopenic purpura was made and the child recovered dramatically after plasmapheresis. Recent developments in the understanding of TTP are reviewed, including the importance of a metaloprotease required to cleave multimers of von Willi...

Myelodysplastic syndromes (MDS) are a spectrum of clonal stem-cell disorders characterized clinically by bone-marrow failure. Resultant cytopenias responsible for significant mortality and decreased quality life in patients with MDS. In low-risk MDS (LR-MDS), anemia is the most common cytopenia erythropoiesis-stimulating agents (ESA) usually used as first-line therapy. Those who become refracto...

We report two male siblings with SDS. They have the same compound heterozygous mutations. Only one of the siblings acquired cytogenetic abnormality of i(7q) 2 years after diagnosis, became transfusion-dependent, and underwent allogeneic hematopoietic stem cell transplantation. These cases indicate that i(7q) is associated with significant cytopenia in SDS patients.

The fourth edition of the World Health Organization (WHO) classification of myeloid neoplasms refined the criteria for some previously described myeloid neoplasms and recognized several new entities based on recent elucidation of molecular pathogenesis, identification of new diagnostic and prognostic markers, and progress in clinical management. Protein tyrosine kinase abnormalities, including ...

BACKGROUND Accurate prediction of a patient's prognosis is useful to define the risk posed by the disease. Age, gender, peripheral blood cytopenia, proportion of bone marrow (BM) blasts, performance status, comorbidities, transfusion dependence, specific karyotype abnormalities and molecular biomarkers can refine the prediction of prognosis in MDS. AIM to assess the influence of the some prog...

Peripheral blood cytopenia in children can be due to a variety of acquired or inherited diseases. Genetic disorders affecting a single hematopoietic lineage are frequently characterized by typical bone marrow findings, such as lack of progenitors or maturation arrest in congenital neutropenia or a lack of megakaryocytes in congenital amegakaryocytic thrombocytopenia, whereas antibody-mediated d...