Diamond-Blackfan anemia (DBA) is a rare, inherited bone marrow failure syndrome that manifests as anemia in early infancy. Blood transfusion is a critical factor for survival. However, blood transfusions can result in iron overload. Endocrinopathies, hepatic cirrhosis, and cardiomyopathy are the most common complications of iron overload. Here, we report the case of an 18-year-old boy with DBA with hyperglycemia, short stature, and absence of puberty. The patient showed endocrine dysfunction associated with iron overload caused by repeated transfusions. He was eventually diagnosed with acquired hypopituitarism and was placed on testosterone replacement therapy. Endocrine dysfunction is common in patient with DBA, with an early manifestation of symptoms, even in teenage years. Patients receiving corticosteroid treatment or those in remission may also exhibit endocrine dysfunction, although its prevalence is the highest among chronic transfusion patients. Ongoing monitoring and evaluation of growth and pubertal development are needed for better management of these disorders.
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To assess the current state of anemia evaluation in the elderly over 80 years of age.
Patients who were more than 80 years old and visited Dongguk University Ilsan Hospital from April 2005 to February 2014 were included. Statistical analysis were assessed using the logistic regression model.
Total 548 patients, who had anemia according to WHO criteria, were identified. The median age was 85 years old (range, 82 to 99 years) and median hemoglobin level was 11.0 g/dL (range, 2.7 to 12.9 g/dL). Twenty-eight, 468, and 52 patients were classified as microcytic anemia, normocytic anemia, and macrocytic anemia, respectively. Among them, 397 patients (72.4%) did not undergo proper evaluation for the cause anemia i.e., 8 cases (28.5%) of microcytic anemia, 361 cases (77.1%) of normocytic anemia, and the 28 cases (53.84%) of 52 macrocytic anemia patients. The remaining 151 patients (27.6%) had completed the evaluation, and 24 patients (15.9%) were diagnosed as solid malignancies. In the assessment of iron deficiency anemia, hemoglobin levels, and age had no effect on whether or not to perform esophagogastroduodenoscopy.
This finding showed that physicians often neglected anemia in individuals over 80 years of age. Though these patients have limited life expectancy, physicians should carefully discriminate the sub-population who will be benefit from adequate evaluation and treatment.
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A 56-year-old woman with emphysematous pyelonephritis underwent an emergent left nephrectomy due to her religious creed. Postoperative hemoglobin level was decreased to 4.4 g/dL from preoperative value of 13.9 g/dL. The patient completely recovered without transfusion and was discharged on the 40th postoperative day without complication.