Hereditary Hemolytic Anemia in Korea: a Retrospective Study from 1997 to 2006 / 대한혈액학회지

BACKGROUND: The aim of this study was to investigate the prevalence, clinical and laboratory findings of hereditary hemolytic anemia (HHA) in Korea from 1997 to 2006 and to develop the appropriate diagnostic approach for HHA. METHODS: By the use of questionnaires, information on the clinical and laboratory findings ofHHA diagnosed from 1997 to 2006 in Korea was collected and analyzed retrospectively. A total of 431 cases were enrolled in this study from 46 departments of 35 hospitals. RESULTS: The overall frequency of HHA did not change through the 10-year period for pediatrics but did show an increasing tendency for internal medicine. The overall male to female sex ratio did not show sex predominance (1.17:1), but a significant male predominance with a ratio of 1.49:1 was seen for pediatrics while a significant female predominance with a ratio of 1:1.97 was seen forinternal medicine. Of the total cases, 74.2% (282/431) were diagnosed before the age of 15 years. The etiologies of HHA were classified as red cell membrane defects, hemoglobinopathies, red cell enzyme deficiencies and unknown causes. There were 382 cases (88.6%) of red cell membrane defects with 376 cases (87.2%) of hereditary spherocytosis and 6 cases (1.4%) of hereditary elliptocytosis, 20 cases (4.6%) of hemoglobinopathies with 18 cases (4.2%) of beta-thalassemia, a case (0.2%) of alpha-thalassemia and a case (0.2%) of Hemoglobin Madrid, 7 cases (1.6%) of red cell enzyme deficiencies with 5 cases (1.2%) of glucose-6- phosphate dehydrogenase (G-6-PD) deficiency, a case (0.2%) of pyruvate kinase (PK) deficiency and a case (0.2%) of enolase deficiency, and 22 cases (5.1%) of unknown causes. The most common chief complaint in pediatric patients was pallor and that in adult patients was jaundice. In the red cell membrane defect group of patients, the level of hemoglobin was significantly higher than in adult patients. The mean corpuscular volume, mean corpuscular hemoglobin, corrected reticulocyte count, total and indirect bilirubin level and lactate dehydrogenase levels in the hemoglobinopathy group of patients were significantly lower than the values in the red cell membrane defect group of patients. The mean concentration of G-6-PD was 0.8+/-0.7U/1012RBC in the G-6-PD deficient patients, PK was 1.7U/1010 RBC in the PK deficient patient, and the level of enolase was 0.04U/g of Hb in the enolase deficient patient. CONCLUSION: The most prevalent cause of HHA in Korea during 1997 to 2006 was hereditary spherocytosis, but HHA by other causes such as hemoglobinopathy and red cell enzyme deficiency gradually increased with the development of molecular diagnostic methods and increasing general interest. However, the etiologies of HHA need to be pursued further in 5.1% of the patients. An systematic standard diagnostic approach is needed in a nationwide prospective study for correct diagnoses and appropriate management of HHA.

Current Status of Hematopoietic Stem Cell Transplantation in Korean Children / 대한혈액학회지

BACKGROUND: Hematopoietic stem cell transplantation (HSCT) is one of the most important armamentarium against various hematologic malignancies or some solid tumors. We investigated the number of patients who might need transplants and compared with that of actual transplants to conceptualize current status and circumstances of HSCTs in Korean children. METHODS: Questionnaires were sent to Korean Society of Hematopoietic Stem Cell Transplantation (KSHSCT) members who were taking care of children with malignancies or hematologic diseases. Almost all of the newly diagnosed patients between Jan, 1st and Dec, 31st, 2003 were enrolled in the study. RESULTS: Seven hundred forty eight children (male to female ratio = 1.4:1) were enrolled. The median age was 6.1 years old (8 days~28.8 years old). Malignant diseases consisted of 695 cases (92.9%), and among them almost half were hematologic malignancies. The participating members speculated that HSCTs should be indicated in 285 children (38.1%) which included 209 allogeneic, and 76 autologous transplants. In reality, however, allogeneic HSCTs were performed only in 140 children (67.0%) with the median interval of 5.9 month, and autologous transplants in 44 children (57.9%) with 8.3 month. In autologous setting, all the patients received peripheral blood stem cells (PBSCs), whereas bone marrow (61%), cord blood (34%), and PBSC (5%) were used in allogeneic HSCTs. Donor types were as follows: unrelated donor (37%), cord blood (34%), sibling donor (25%), and family (4%). The reasons for not performing HSCTs were unfavorable disease status or death, no availability of suitable donor, economical situation, and refusal by parental preferences. Under the strict insurance regulations, many transplants were not covered by insurance. More autologous transplants were performed without insurance coverage than allogeneic HSCTs (P=0.013). Those cases were advanced cases and HLA mismatch transplants for allogeneic setting, and relatively rare diseases still awaiting favorable results of transplants for autologous setting. CONCLUSION: HSCTs are essential part of treatment strategies for children with various diseases. Unfortunately, however, a third of patients who were in need of transplants did not receive HSCTs due to various reasons. It is necessary to expand unrelated donor pool or cord blood banks for the cases lacking HLA-identical sibling donors. Also medical insurances should cover HSCTs for rare diseases as well as for less favorable but novel situations where there are no suitable alternatives.

A Multicenter Clinical Study on Second Malignancies after Treatment of Childhood Cancer / 대한소아혈액종양학회지

BACKGROUND: This study was undertaken to investigate the frequency, causes, and outcome of second malignancies(SM) following treatment of childhood cancer in Korea. METHODS: The Korean Society of Pediatric Hematology-Oncology(KSPHO) reviewed the records of patients who developed SM during the period of 1981-1997 through nationwide search. RESULTS: Twenty four cases were collected, among which 7 AML, 5 osteosarcoma and 5 ALL were observed. Fifteen of them were boys, and 9 girls (1.7:1). Familial cancer was registered in 5 cases among direct relatives. No interrelationship between first and SM was observed except in 2 retinoblastoma patients who developed osteosarcoma. The SM developed in a period of 8 to 144 months (mean:55 months) after the initiation of treatment for the first malignancy. Sixteen cases had radiotherapy for the first malignancy, and in 6 of them the SM developed in the irradiated area. Fifteen patients were treated with alkylating agents, 12 received anthracyclines and 7 received etoposide. They survived 1 to 110 months (mean:15 months) after development of the SM. Sixteen patients are dead, 3 currently free of disease, and 5 alive with disease. CONCLUSION: AML, osteosarcoma and ALL were most prevalent SM in Korean children. The mean latent period was 55 months, and showed poor mean survival period of 15 months. Radiotherapy seems to be a significant risk factor for the development of SM, but more cases are needed to assess the actual risk of certain chemotherapeutic agent. For this purpose, KSPHO continues to collect the cases of SM and to follow up the registered patients.

Primary Immunode Ficiency Disorders in Infancy and Childhood

No abstract available.

Clinical Assessment on Juvenile Diabetes Mellitus

Eleven cases of juvenile diabetes mellitus who were admitted Seoul National University Hospital from Jan., 1969 to Aug., 1978 were aha1yzed. The mean age of onset was 7 and female to male ratio was 8 to 3 with female preponderance. Four had family history of diabetes, although none had diabetic sibling. Polyuria and polydipsia were noted in all cases as initial symptoms, and symptoms of weight loss (6 cases), disturbances in consciousness (5), generalized weakness (5), anorexia (4) and enuresis (3) were noted in the order of frequency. Leucocytosis was noted in 5 cases, but only 2 among the 4 who had infection revealed leucocytosis, The mean blood glucose level was 320 mg% and serum osmolality was 293 mOsm/L. There was no significant difference in the level of blood sugar and serum osmolality according to the consciousness status. Eight episodes of ketoacidosis occured in 5 cases. Three episodes developed due to discontinuance of insulin and three episodes accompanied infection. The mean blood glucose level was 495 mg% and serum osmolality was 300 mOsm/L in ketoacidosis. The consciousness cleared in average 20 hours and ketonuria disappeared in average 26 hours after the administration of insulin (average 5 units/kg of body weight). At discharge, the average dose of insulin needed was 1.2 U/kg/d. Six patients were followed from 6 months to 6 years. Two developed pulmomary tuberculosis during the period of follow up.

Malignant Choroid Plexus Tumor in an Infant

A 42 day-old male infant visited to our emergency room with chief complaints of convulsion. Prenatal and birth histories were unremarkable. The patient appeared well except persistent jaundice and had no signs of increased intracranial pressure. The head circumference at birth was not measured. The head circumference at 42 days was 39cm(50th percnntile) At the age of 42 days, tonic convulsion developed suddenly and soon fell into coma. The patient died, 20 hours after arrival. Postmortem examiation revealed a large necrotic tumor mass in the left lateral ventricle of the cerebral hemispheres. The tumor growths were histologically composed of partly papillary but most undifferentiated carcinoma arising from the choroid plexus of the left lateral ventricle. In addition to celluar anaplasia many mitoses were observed. The tumor masses invaded periventricular while matter and also extended to subarachnoid space of the cerebral and cerebellar hemispheres. The central part of the tumor was undergoing necrosis and massive hemorrhage which extended into surrounding brain parenchyme.