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Two Cases of alpha-thalassemia in Korean Children from Multicultural Family

Lee HS, Lee DY, Kim HJ, Lee IS

  • KMID: 1448324
  • Clin Pediatr Hematol Oncol.
  • 2011 Oct;18(2):136-139.
We describe two cases of alpha-thalassemia in girls from multicultural Korean-Vietnamese family, diagnosed by genetic testing, multiplex ligation-dependent probe amplification. To our knowledge, this is the first report of alpha-thalassemia...
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Genotypic influence of alpha-deletions on the phenotype of Indian sickle cell anemia patients

Pandey S, Pandey S, Mishra RM, Sharma M, Saxena R

BACKGROUND: Some reports have shown that co-inheritance of alpha-thalassemia and sickle cell disease improves hematological parameters and results in a relatively mild clinical picture for patients; however, the exact molecular...
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Detection of alpha-thalassemia-1 Southeast Asian and Thai Type Deletions and beta-thalassemia 3.5-kb Deletion by Single-tube Multiplex Real-time PCR with SYBR Green1 and High-resolution Melting Analysis

Pornprasert S, Wiengkum T, Srithep S, Chainoi I, Singboottra P, Wongwiwatthananukit S

BACKGROUND: Prevention and control of thalassemia requires simple, rapid, and accurate screening tests for carrier couples who are at risk of conceiving fetuses with severe thalassemia. METHODS: Single-tube multiplex real-time PCR...
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Clinical Characteristics of Pediatric Thalassemia in Korea: A Single Institute Experience

Hong CR, Kang HJ, Lee JW, Kim H, Kim NH, Park KD, Park JD, Seong MW, Park SS, Shin HY, Ahn HS

Few literatures have elaborated on the clinical characteristics of children with thalassemia from low-prevalence areas. A retrospective analysis was conducted on children genetically confirmed with thalassemia at Seoul National University...
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A Case of Heterozygous alpha(+)-Thalassemia Diagnosed in a Korean Family by Using Multiplex Ligation-Dependent Probe Amplification

Oh AC, Lee JK, Hong YJ, Hong SI, Yang SH, Park CH, Kim HJ, Jo HS, Chang YH

  • KMID: 1426767
  • J Lab Med Qual Assur.
  • 2012 Dec;34(2):113-117.
Alpha-thalassemia (alpha-thalassemia), which is prevalent in the Mediterranean region, is caused by deficient synthesis of the alpha-globin chains. It is commonly caused by HBA1 and/or HBA2 gene deletion and is...
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The First Case of X-linked Alpha-thalassemia/Mental Retardation (ATR-X) Syndrome in Korea

Yun KW, Chae SA, Lee JJ, Yun SW, Yoo BH, Lim IS, Choi ES, Lee MK

Mutation of the ATRX gene leads to X-linked alpha-thalassemia/mental retardation (ATR-X) syndrome and several other X-linked mental retardation syndromes. We report the first case of ATR-X syndrome documented here in...
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Nonimmune Hydrops Fetalis in One Identical Twin: A Case of Spontaneous Reversal in Utero

Choi SJ, Kim YH, Song CH, Jung H

  • KMID: 2075330
  • Korean J Obstet Gynecol.
  • 1997 Sep;40(9):2048-2054.
Nonimmune hydrops fetals is defined as generalized edema of the fetal soft tissue in utero and may be associated with effusion in the serous cavities without hematologic evidence of isoimmunization....
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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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Microcytosis in children and adolescents with the sickle cell trait in Basra, Iraq

Jaber RZ, Hassan MK, Al-Salait

BACKGROUND: Microcytic anemia, the most common form of anemia in children and adolescents, is a heterogeneous group of diseases that is acquired or inherited. We assessed the frequency and causes...
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Hereditary Hemolytic Anemia in Korea: a Retrospective Study from 1997 to 2006

Cho HS, Hah JO, Kang IJ, Kang HJ, Kwak JY, Koo HH, Kook H, Kim BK, Kim SK, Kim ST, Kim YD, Kim JY, Kim CS, Ghim T, Kim HS, Park SG, Park SY, Park JE, Bang SM, Seo JJ, Suh CI, Sohn SK, Shin HJ, Shin HY, Ahn HS, Oh D, Yoo ES, Lyu CJ, Yoon SS, Lee KS, Lee KC, Lee KH, Lee SY, Lee YH, Lee JA, Lee JS, Lim YT, Lim JY, Im HJ, Jeong DC, Chong SY, Chung JS, Jung HL, Cho GJ, Jo DY, Jin JY, Choi EJ, Hyun MS, Hwang PH

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...
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