To elucidate how pyridoxine-refractory X-linked sideroblastic anemia (XLSA) develops, we analyzed the erythroid-specific 5-aminolevulinate synthase (ALAS-E) gene of a patient with the anemia. The activity and amount of the enzyme in bone marrow cells of the patient were found to be approximately 5% of the normal control. We identified a point mutation, which introduces an amino acid substitutio...

BACKGROUND & AIMS Iron deficiency anemia is a common complication of gastric surgery that in certain patients can be refractory to treatment with oral iron and needs to be treated parenterally. METHODS A 48-year woman underwent gastric surgery for a gastric ulcer. She was referred to the nutrition unit for the study and treatment of a 3-year iron deficiency anemia refractory to oral iron supp...

The International Prognostic Scoring System (IPSS) has been widely used to predict the prognosis of patients with myelodysplastic syndrome (MDS). However, IPSS does not always provide a sufficiently precise evaluation of patients to allow the appropriate choice of clinical interventions. Here, we analyzed the expression of Bmi-1, which is required to regulate the self-renewal in CD34+ cells fro...

Severe aplastic anemia (SAA) is a life-threatening bone marrow failure disorder that can be treated with bone marrow transplantation, immunosuppressive therapy, and high-dose cyclophosphamide. Here, we report long-term follow-up on 67 SAA patients (44 treatment-naive and 23 refractory) treated with high-dose cyclophosphamide. At 10 years, the overall actuarial survival was 88%, the response rat...

dear editors: adenocarcinoma of colon and rectum is the second most common cancer of the gastrointestinal (gi) tract in children. the development of carcinoma of colon in general appears to be associated with several predisposing factors such as familial polyposis, hereditary non-polyposis syndromes, ulcerative colitis, previous ureterosigmoidostomy or radiation therapy and dietary factors (hig...

BACKGROUND Iron-deficiency anemia is a widespread public health problem with major consequences for human health especially, children. However, in a fraction of patients an underlying cause is never found during routine investigation. Recent studies have suggested an association between Helicobacter pylori (H. Pylori) infection and iron-deficiency anemia. CASE PRESENTATION Here is reported fo...

background since the discovery of helicobacter pylori, several clinical reports have demonstrated that h. pylori infection has emerged as a new cause of refractory iron stores in children. we carried out a systematic literature review to primarily evaluate the existing evidence on the association between childhood h. pylori infection and iron deficiency anemia (ida) and secondly, to investigate...