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Epidemiological Study of Hereditary Hemolytic Anemia in the Korean Pediatric Population during 1997–2016: a Nationwide Retrospective Cohort Study

Shim YJ, Jung HL, Shin HY, Kang HJ, Choi JY, Hah JO, Lee JM, Lim YT, Yang EJ, Baek HJ, Choi HS, Yoo KH, Park JE, Kim S, Kim JY, Park ES, Im HJ, Chueh HW, Kim SK, Lee JH, Yoo ES, Park HJ, Lee JA, Park M, Kang HS, Park JK, Lee NH, Park SK, Lee YH, Lee SW, Choi EJ, Kong SG

Background: Hereditary hemolytic anemia (HHA) is a rare disease characterized by premature red blood cell (RBC) destruction due to intrinsic RBC defects. The RBC Disorder Working Party of the Korean...
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A Case of Hereditary Spherocytosis Initially Manifested as an Aplastic Crisis Caused by Parvovirus B19 Infection

Jin H, Lee JW, Ju HY, Cho HW, Hyun JK, Sung KW, Koo HH, Kim HJ, Yoo KH

Hereditary spherocytosis (HS) is the most common inherited red cell membrane disorder. Its main laboratory finding is anemia with reticulocytosis. However, in the case of an aplastic crisis, there may...
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Two Korean Cases of Hereditary Spherocytosis Caused by Mutations in SLC4A1

Cho H, Lee JW, Chung NG, Lee SE, Jang W, Kim M, Han K, Kim Y

Hereditary spherocytosis (HS) is caused by mutations in the SPTA1, SPTB, ANK1, SLC4A1, and EPB42 genes, all of which encode erythrocyte membrane proteins. Mutations in SLC4A1, which encodes band 3...
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Cryohemolysis, erythrocyte osmotic fragility, and supplementary hematimetric indices in the diagnosis of hereditary spherocytosis

Emilse LA, Cecilia H, María TM, Eugenia MM, Alicia IB, Lazarte SS

BACKGROUND: Hereditary spherocytosis (HS) is a chronic hemolytic anemia characterized by microspherocytes in the peripheral blood and increased erythrocyte osmotic fragility (EOF). This study evaluated the cryohemolysis test (CHT); initial...
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Treatment and Management of Late Complications in Hereditary Hemolytic Anemia

Chueh HW

Hereditary hemolytic anemia is a very heterogeneous disorder in which abnormalities of red blood cell structural protein, globin protein, or enzyme defect lead to shortened life span. There has been...
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Stability of eosin-5'-maleimide dye used in flow cytometric analysis for red cell membrane disorders

Mehra S, Tyagi N, Dorwal P, Pande A, Jain D, Sachdev R, Raina V

BACKGROUND: The eosin-5'-maleimide (EMA) binding test using flow cytometry is a common method to measure reduced mean channel fluorescence (MCF) of EMA-labeled red blood cells (RBCs) from patients with red...
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Coexistence of Gilbert Syndrome and Hereditary Spherocytosis in a Child Presenting with Extreme Jaundice

Lee JH, Moon KR

Gilbert syndrome is the most common inherited disorder of bilirubin glucuronidation. It is characterized by intermittent episodes of jaundice in the absence of hepatocellular disease or hemolysis. Hereditary spherocytosis is...
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Hereditary hemolytic anemia in Korea from 2007 to 2011: A study by the Korean Hereditary Hemolytic Anemia Working Party of the Korean Society of Hematology

Park ES, Jung HL, Kim HJ, Park SS, Bae SH, Shin HY, Song SH, Koh KN, Lyu CJ, Lim YT, Han DK, Hah JO

BACKGROUND: The number of patients diagnosed with hereditary hemolytic anemia (HHA) has increased since the advent of novel diagnostic techniques that accurately identify this disorder. Here, we report data from...
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Extramedullary Hematopoiesis at the Posterior Mediastinum in Patient with Hereditary Spherocytosis: A Case Report

Yeom SY, Lim JH, Han KN, Kang CH, Park IK, Kim YT

Thoracic extramedullary hematopoiesis (EMH) is a rare disease entity that is usually associated with hematologic disorders, such as myelodysplastic or hemolytic disease. Because thoracic EMH is usually encountered as a...
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A Case of Hereditary Spherocytosis Coexisting with Gilbert's Syndrome

Lee MJ, Chang YH, Kang SH, Mun SK, Kim H, Han CJ, Kim J, Kang HJ

We recently encountered a case of hereditary spherocytosis coexisting with Gilbert's syndrome. Patient was initially diagnosed with Gilbert's syndrome and observed, but other findings suggestive of concurrent hemolysis, such as...
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Autoimmune Hemolytic Anemia after Aplastic Crisis due to Parvovirus B19 Infection in a Patient with Hereditary Spherocytosis

Song SA, Lee MY, Kim SH, Lee JY, Oh SH, Shin JH, Kim HR, Jun KR, Lee JN

  • KMID: 2312200
  • Lab Med Online.
  • 2012 Jul;2(3):166-169.
Hereditary spherocytosis (HS) is a genetic disorder characterized by the production and destruction of spherocytes due to a deficiency of red cell membrane cytoskeletal proteins, resulting in the clinical presentation...
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Serial CT Findings of Resolving Extramedullary Hematopoiesis as Unilateral Posterior Mediastinal Mass after Splenectomy in Hereditary Spherocytosis: A Case Report

Nam MY, Lee JW, Kim YJ, Kim YJ, Kang YH, Lee KH

Intrathoracic extramedullary hematopoiesis (EMH) is a rare condition of the hereditary spherocytosis. EMH usually regresses or disappears after treatment; such as splenectomy in the case of spherocytosis. We report a...
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Hereditary Spherocytosis Coexisting with UDP-Glucuronosyltransferase Deficiency Highly Suggestive of Crigler-Najjar Syndrome Type II

Iijima S, Ohzeki T, Maruo Y

Patients with co-existing hereditary spherocytosis (HS) and UDP-glucuronosyltransferase 1A1 (UGT1A1) deficiency as Gilbert's syndrome (GS) have been reported, and previous studies have demonstrated an increased risk for developing gallstones in...
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A case of concomitant Gilbert's syndrome and hereditary spherocytosis

Lee HJ, Moon HS, Lee ES, Kim SH, Sung JK, Lee BS, Jeong HY, Lee HY, Eu YJ

We describe moderate hyperbilirubinemia in a 28-year-old man who suffered from gallstones and splenomegaly, with combined disorders of hereditary spherocytosis (HS) and Gilbert's syndrome (GS). Since it is difficult to...
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Flow-Assisted Differential Diagnosis of Hemolytic Anemia with Spherocytosis: A Case Report

Won DI

In patients with hemolytic anemia associated with spherocytosis, differential diagnosis has to be made whether the hemolysis is immune-mediated or of non-immune origin. We report a case of hereditary spherocytosis...
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Hereditary Spherocytosis in Children: Experiences in a Single Center

Park EA, Kim MK, Park JK, Lee SY

  • KMID: 2168941
  • Clin Pediatr Hematol Oncol.
  • 2010 Oct;17(2):137-146.
PURPOSE: The aim of this study was to evaluate the clinical and laboratory findings of hereditary spherocytosis (HS) by comparing patients of different age groups and profiling the outcomes of...
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Prolonged Extreme Thrombocytosis in a Postsplenectomy Patient with Hereditary Spherocytosis

Park YM, Park J, Jo Y, Kim SH, Shin KC, Won IS, Sym SJ, Cho EK, Shin DB, Lee JH

We report a case of prolonged extreme reactive thrombocytosis in a post-splenectomy patient with hereditary spherocytosis. A 29-year-old female patient presented with gall stones detected incidentally by abdominal ultrasonography. Her...
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The Aplastic Crisis of Hereditary Spherocytosis Due to Parvovirus B19 Infection

Choi HJ, Lee JH, Lee KS

  • KMID: 2049208
  • Clin Pediatr Hematol Oncol.
  • 2006 Apr;13(1):22-31.
PURPOSE: Hereditary spherocytosis (HS) is the commonest cause of inherited hemolytic anemia in Korea. In hereditary spherocytosis patients, parvovirus B19 infection causes transient severe anemia, so called aplastic crisis. This...
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A Clinical Study of Hereditary Spherocytosis

Kim DG, Yeo CY, Han DG, Baik HJ, Kook H, Hwang TJ

  • KMID: 1514177
  • Chonnam Med J.
  • 2006 Dec;42(3):174-179.
ion of 0.65% NaCl solution and completed at 0.38%. Splenectomy was performed in 13 with concomitant cholecystectomy in 6 out of 13, indication of which was frequent transfusions due to...
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Clinical Manifestations and Factors Associated with Complications and Splenectomy in Hereditary Spherocytosis

Park SJ, Yang WS, Hwang HS, Jang PS, Kim HH, Kim JH, Koh DK, Lee KY, Cho B, Jeong DC, Kim HK

  • KMID: 2134645
  • Clin Pediatr Hematol Oncol.
  • 2006 Oct;13(2):158-166.
PURPOSE: Hereditary spherocytosis (HS) is the most common non-immune hemolytic anemia in children. Children with HS often have positive family history as it is inherited by autosomal dominant pattern. Clinical...
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