Differentiation of homozygous hemoglobin E and hemoglobin E‐β 0 ‐thalassemia in children

2018 ◽  
Vol 41 (3) ◽  
Author(s):  
Areeda Arong ◽  
Greetapop Wangwok ◽  
Kritsada Singha ◽  
Kanokwan Sanchaisuriya ◽  
Goonnapa Fucharoen ◽  
...  
Keyword(s):  
Hemoglobin E ◽  
Homozygous Hemoglobin E

Pregnancy Outcomes Among Women with Homozygous Hemoglobin E Disease: A Retrospective Cohort Study

2016 ◽  
Vol 20 (11) ◽  
pp. 2367-2371
Author(s):  
Supatra Sirichotiyakul ◽  
Phudit Jatavan ◽  
Kuntharee Traisrisilp ◽  
Theera Tongsong
Keyword(s):  
Cohort Study ◽  
Retrospective Cohort Study ◽  
Pregnancy Outcomes ◽  
Retrospective Cohort ◽  
Hemoglobin E ◽  
Hemoglobin E Disease ◽  
Homozygous Hemoglobin E

EE score: an index for simple differentiation of homozygous hemoglobin E and hemoglobin E-β0-thalassemia

2018 ◽  
Vol 56 (9) ◽  
pp. 1507-1513 ◽  
Author(s):  
Kritsada Singha ◽  
Goonnapa Fucharoen ◽  
Kanokwan Sanchaisuriya ◽  
Supan Fucharoen
Keyword(s):  
Predictive Value ◽  
Dna Analysis ◽  
Screening Program ◽  
Inverse Correlation ◽  
Molecular Testing ◽  
Related Disorder ◽  
Hemoglobin E ◽  
Dna Analyses ◽  
Homozygous Hemoglobin E ◽  
Thalassemia Screening

Abstract Background: The objective of the study was to describe a formula based on hemoglobin (Hb)A2 and HbF levels for differentiation of homozygous HbE and HbE-β-thalassemia. Methods: A total of 1256 subjects suspected for homozygous HbE or HbE-β0-thalassemia were recruited at the ongoing thalassemia screening program at Khon Kaen University, Thailand. Hb analysis was done using capillary electrophoresis. Genotyping was based on DNA analysis. An arbitrary formula based on HbA2 and HbF was developed statistically for differentiation of the two conditions. Validation was carried out prospectively on another 139 subjects encountered at routine laboratory. Results: Among 1256 subjects, Hb and DNA analyses identified cases with homozygous HbE (n=1076, 85.7%), HbE-β0-thalassemia (n=140, 11.1%), HbE-δβ0-thalassemia (n=30, 2.4%) and unknown HbE-related disorder (n=10, 0.8%). An inverse correlation between the amounts of HbA2 and HbF in HbE-β0-thalassemia was observed. With differences in the amounts of HbA2 and HbF between the groups, an arbitrary score (7.3 HbA2+HbF) was developed where score above 60 indicated HbE-β0-thalassemia. Application of this score on another 139 subjects showed accurate prediction of HbE-β0-thalassemia with 100% sensitivity, 96.5% specificity, 85.7% positive predictive value and 100% negative predictive value. Successful application onto couples at risk was demonstrated. Conclusions: An established score should prove useful in the differentiation of homozygous HbE and HbE-β0-thalassemia in routine setting and lead to a significant reduction in number of referring cases for molecular testing.

Globin Chain Synthesis in Heterozygous and Homozygous Hemoglobin E

Hemoglobin ◽  
1982 ◽  
Vol 6 (1) ◽  
pp. 75-78 ◽  
Author(s):  
P. Wasi ◽  
P. Winichagoon ◽  
T. Baramee ◽  
S. Fucharoean
Keyword(s):  
Globin Chain ◽  
Hemoglobin E ◽  
Chain Synthesis ◽  
Globin Chain Synthesis ◽  
Homozygous Hemoglobin E

Krüppel-like factor 1 mutations and expression of hemoglobins F and A2 in homozygous hemoglobin E syndrome

2015 ◽  
Vol 94 (7) ◽  
pp. 1093-1098 ◽  
Author(s):  
Wanicha Tepakhan ◽  
Supawadee Yamsri ◽  
Goonnapa Fucharoen ◽  
Kanokwan Sanchaisuriya ◽  
Supan Fucharoen
Keyword(s):  
Hemoglobin E ◽  
Homozygous Hemoglobin E

Differentiation of homozygous hemoglobin E from compound heterozygous hemoglobin E-β0-thalassemia by hemoglobin E mutation analysis

1992 ◽  
Vol 120 (5) ◽  
pp. 775-779 ◽  
Author(s):  
John P. Johnson ◽  
Elliot Vichinsky ◽  
Deborah Hurst ◽  
Anne Camber ◽  
Bertram Lubin ◽  
...  
Keyword(s):  
Mutation Analysis ◽  
Compound Heterozygous ◽  
Hemoglobin E ◽  
Homozygous Hemoglobin E

scholarly journals EF Bart’s Disease with Coinheritance of Gγ-XmnI and Aγ-Globin Polymorphisms: A Case of Nontransfusion-Dependant Thalassemia

2020 ◽  
Vol 2020 ◽  
pp. 1-5
Author(s):  
Kane M. Laks ◽  
Cara Hirner ◽  
Barbara Gruner ◽  
Jared Coberly ◽  
Katsiaryna Laziuk ◽  
...  
Keyword(s):  
Young Child ◽  
Gene Polymorphisms ◽  
Globin Gene ◽  
Thalassemia Intermedia ◽  
Rare Form ◽  
Hemoglobin F ◽  
Hemoglobin E ◽  
Moderate Anemia ◽  
Homozygous Hemoglobin E ◽  
Hemoglobin H Disease

EF Bart’s disease is a rare form of nontransfusion-dependant thalassemia (NTDT) due to the coinheritance of homozygous hemoglobin E (βE/βE) genotype with hemoglobin H disease. These individuals are routinely found to have thalassemia intermedia with moderate anemia, increased hemoglobin Bart’s and hemoglobin F on electrophoresis. The contribution of hemoglobin F-inducing polymorphisms in this disease has not been described previously. Here, we describe the hematological profile in a young child with coinheritance of Gγ-XmnI and Aγ-globin gene polymorphisms in EF Bart’s disease. Interestingly, in this rare form of NTDT, normal HbF and elevated HbA2 were noted.

Detection of β-Thalassemia/Hemoglobin E Disease in Samples which Initially were Diagnosed as Homozygous Hemoglobin E

2013 ◽  
Vol 59 (05+06/2013) ◽  
Author(s):  
Sakorn Pornprasert ◽  
Asami Moriyama ◽  
Kanyakan Kongthai ◽  
Jarurin Waneesorn ◽  
Kanokwan Jaiping ◽  
...  
Keyword(s):  
Hemoglobin E ◽  
Hemoglobin E Disease ◽  
Homozygous Hemoglobin E
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