Clinical and hematologic manifestations in patients with Diamond Blackfan anemia in Korea

BACKGROUND: Diamond Blackfan anemia (DBA), characterized by impaired red cell production, is a rare condition that is usually symptomatic in early infancy. The purpose of this study was to assess nationwide experiences of DBA encountered over a period of 20 years. METHODS: The medical records of 56 patients diagnosed with DBA were retrospectively reviewed from November 1984 to July 2010. Fifteen institutions, including 13 university hospitals, participated in this study. RESULTS: The male-to-female ratio of patients with DBA was 1.67:1. The median age of diagnosis was 4 months, and 74.1% were diagnosed before 1 year of age. From 2000 to 2009, annual incidence was 6.6 cases per million. Excluding growth retardation, 38.2% showed congenital defects: thumb deformities, ptosis, coarctation of aorta, ventricular septal defect, strabismus, etc. The mean hemoglobin concentration was 5.1+/-1.9 g/dL, mean corpuscular volume was 93.4+/-11.6 fL, and mean number of reticulocytes was 19,700/mm3. The mean cellularity of bone marrow was 75%, with myeloid:erythroid ratio of 20.4:1. After remission, 48.9% of patients did not need further steroids. Five patients with DBA who received hematopoietic transplantation have survived. Cancer developed in 2 cases (3.6%). CONCLUSION: The incidence of DBA is similar to data already published, but our study had a male predilection. Although all patients responded to initial treatment with steroids, about half needed further steroids after remission. It is necessary to collect further data, including information regarding management pathways, from nationwide DBA registries, along with data on molecular analyses.

Gastrointestinal Disease in Children with Iron Deficiency Anemia

PURPOSE: The authors performed this study to find out the associated GI disease and H. pylori infection in children with iron-deficiency anemia(IDA). METHODS: Twenty-six children older than 2 years with IDA and no history of insufficient iron intake were investigated from 1994 to 1998. Gastrofiberoscopic examination and biopsy and rapid urease test were performed with serum H. pylori IgG. Colonofiberoscopic examination and colon study were performed in indicated cases. Combination therapy were used for H. pylori infection. RESULTS: There were 14 males and 12 females, and 69% of total patients were aged 10 to 15 years. GI diseases were revealed in 23 patients. 17 with H. pylori-associated gastroduodenal diseases(8 nodular duodenitis, 7 nodular gastritis, 5 duodenal ulcer, 4 superficial gastritis, 2 gastric ulcer, 1 hemorrhagic duodenitis), 2 with nodular duodenitis, 1 with reflux esophagitis, 1 with duodenal ulcer, 1 with intestinal tuberculosis, and 1 with ulcerative colitis. Of 12 patients with recurrent IDA, 8 had H. pylori-associated gastroduodenal diseases and IDA did not recur after the treatment for H. pylori infection in these 8 patients. The preceeding causes of IDA in 3 with no GI disease were menorrhagia, chronic ITP, and excessive ingestion of raw milk. CONCLUSION: Our results showed that GI diseases should be suspected in children with IDA regardless of abdominal symptoms and H. pylori infection may have an important role in developing IDA. In most children with recurrent IDA, H. pylori-associated gastroduodenal diseases should be considered as well as other preceeding causes of IDA.

Comparison of tuberculin skin test results and adverse reactions following BCG vaccination in various infant groups of different ages

Most authorities including WHO recommended immununizing infants with BCG as early as possible in areas prevalent with tuberculosis, however the optimal time for immunization has not well been characterized. Therefore the investigation was undertaken by vaccinating various infant groups of different ages with BCG and subsequently evaluating for adverse effects and tuberculin reactions, in order to contribute to undestanding the optimal time for immunization. Four hundred eighty three infants from the newborn nursery and the well baby clinic of Hanyang University Hospital who had no family history of tuberculosis were divided into three groups; group I of infants immunized within 7 days after birth, group II of infants immunized at about 1 month of age and group III of infants immunized at about 3 months of age. To each infant 0.1 ml of BCG(Institute Merieux, France) was administered intradermaly and approximately 3 months later tuberculin skin test using 5 TU PPD (NIH, Korea) was performed. Adverse reactions following BCG vaccination such as temperature elevation, induration alone or with suppuration at or near the injection site, and lymph node enlargement were also analyzed. The summary of the results is as follows. 1) Distribution of diameters of induration on tuberculin skin test illustrated incomplete bimodal configuration in all three different age groups. The means 2 standard deviations of diameters of indurations distributed on the main bells were 10.07 4.52 mm in group I, 10.65 3.82 mm in group II, and 10.83 5.08 mm in group III, and were not significantly different. 2) Criteria for positive tuberculin reaction was diameters of indurations equal to or greater than 6mm, 2 standard deviations below the mean values of diameters of indurations on the main bells. 3) The positive tuberculin reaction rates of 85.8% in group II and 88.6% in group III were significantly greater than 74.1% in group I. 4) Incidence of complications following BCG vaccination including temperature elevation, induration with suppuration, and localized lymphadenopathy was not different among three groups and the serious complications such as temperature elevation and lymphadenopathy were minimal. The data indicate that it is appropriate to immunize infants with BCG at about one month of age and the incidence of complications following BCG vaccination was not different among three infant groups of different ages.