Unusual phenotype of Hemoglobin EE with Hemoglobin H disease: a pitfall in clinical diagnosis and genetic counseling

Viprakasit, Vip; Tanphaichitr, Voravarn S.

doi:10.1016/j.jpeds.2003.12.021

Cited by 4 publications

(7 citation statements)

References 10 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Traditional molecular methods for detection of Hb E mutation include color complementation assay (Embury et al, 1990), direct b-globin gene DNA sequencing (Viprakasit & Tanphaichitr, 2004), allele specific amplification (Rees et al,1999), restriction enzyme digestion (Wong et al, 2000) and amplification refractory mutation system (Panigrahi et al,2005). These laboratory methods are laborious and may require up to 2 days before obtaining results.…”

Section: Discussionmentioning

confidence: 99%

“…Traditional molecular methods for detection of Hb E mutation include color complementation assay (Embury et al. , 1990), direct β‐globin gene DNA sequencing (Viprakasit & Tanphaichitr, 2004), allele specific amplification (Rees et al. ,1999), restriction enzyme digestion (Wong et al.…”

Section: Discussionmentioning

confidence: 99%

“…This technique is a rapid, reliable and cost-effective method to differentiate Hb E homozygosity from b 0 -thalassemia/Hb E in populations with a high frequency of b-thalassemia and Hb E. 10% to 80% (Rees, 2000). In a number of rare cases the amount of Hb E in b 0 -thalassemia/Hb E, EF Bart's disease and Hb E homozygote may overlap, and subjects with b 0 -thalassemia/Hb E and EF Bart's disease may be misdiagnosed as Hb E homozygote (Embury et al, 1990;Rees, 2000;Wong et al, 2000;Tyagi et al, 2004;Viprakasit & Tanphaichitr, 2004). Therefore, correct diagnosis is required for early institution of appropriate management in such patients and also for offspring risk estimation in couples.…”

Section: S U M M a R Ymentioning

confidence: 99%

“…, 2000; Tyagi et al. , 2004; Viprakasit & Tanphaichitr, 2004). Therefore, correct diagnosis is required for early institution of appropriate management in such patients and also for offspring risk estimation in couples.…”

Section: Introductionmentioning

confidence: 99%

See 3 more Smart Citations

Detection of Hb E mutation (β²⁶, GAG‐AAG, Glu‐Lys) using allelic discrimination analysis

Sangkitporn¹,

Sangnoi²,

Duangruang³

2009

Int J Lab Hematology

View full text Add to dashboard Cite

A method for detection of hemoglobin (Hb) E mutation was developed based on allelic discrimination analysis. Two probes labeled with different fluorescent reporter dyes were designed to specifically detect variation of a single nucleic acid polymorphism (SNP) site in the target template sequence. Polymerase chain reaction (PCR) products of normal allele and mutant allele were detected directly by analyzing fluorescent signal of each probe. This method was validated in term of accuracy (by comparing with sequence analysis) and reproducibility. The % CV between run precision was 5.16-8.86%. The narrow scatter of the results confirmed the reproducibility of the assay. This technique is a rapid, reliable and cost-effective method to differentiate Hb E homozygosity from beta(0)-thalassemia/Hb E in populations with a high frequency of beta-thalassemia and Hb E.

show abstract

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: S U M M a R Ymentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

See 2 more Smart Citations

Detection of Hb E mutation (β²⁶, GAG‐AAG, Glu‐Lys) using allelic discrimination analysis

Sangkitporn¹,

Sangnoi²,

Duangruang³

2009

Int J Lab Hematology

View full text Add to dashboard Cite

show abstract

“…8 Hence, the concentrations of Hb E in double heterozygote for Hb E trait with a 0 -thalassaemia is lower than that of simple Hb E trait (28-30% Hb E) to the concentration of 18-20% Hb E. It is of interest to determine whether co-inheritance of a thalassaemia can also affect the concentration of Hb E at neonatal period. Therefore, we determine the concentration of Hb E based on a globin genotypes and shown in Table 2 and Figure 3.…”

Section: Summary Of All Globin Genotypes and Haemoglobin Profiles In mentioning

confidence: 99%

Diagnostic applications of newborn screening for α-thalassaemias, haemoglobins E and H disorders using isoelectric focusing on dry blood spots

et al. 2013

Self Cite

View full text Add to dashboard Cite

Background: Neonatal screening for haemoglobin (Hb) disorders is a standard of care in several developed countries with the main objective to detect Hb S. Such practice has not been established in Thailand where a-thalassaemia and haemoglobin E (Hb E) are highly prevalent. Early identification of thalassaemias could be helpful and strengthen the programme for prevention and control for severe thalassaemias. Methods: Data from isoelectric focusing (IEF) and IsoscanÕ for detecting types and amount (%) of each haemoglobin in 350 newborn's dried blood spots were analysed and compared with the comprehensive genotype analysis by DNA studies as a gold standard. Results: Based on genetic profiles, there were 10 different categories: (1) normal (n ¼ 227), (2) a þ -thalassaemia trait (n ¼ 14), (3) a 0 -thalassaemia trait (n ¼ 13), (4) 0 -thalassaemia trait (n ¼ 7), (5) Hb E trait (n ¼ 72), (6) Hb E trait with a 0 -thalassaemia or homozygous a þ -thalassaemia (n ¼ 5), (7) Hb E trait with a þ -thalassaemia trait (n ¼ 5), (8) homozygous Hb E (n ¼ 3), (9) homozygous Hb E with a 0 -thalassaemia trait (n ¼ 1) and (10) Hb H disease (n ¼ 3). The presence of Hb Bart's and Hb E were used to identify cases with a-thalassaemia and Hb E, respectively. We set 0.25% of Hb Bart's and 1.5% of Hb E as a cut-off level to detect a þ -thalassaemia trait (sensitivity 92.86% and specificity 74.0%) and Hb E trait with 100% of both sensitivity and specificity for IEF diagnosis. Conclusion: Although molecular diagnosis seems to be better for definitive diagnosis of thalassaemia syndromes at birth, however, using our reference range described herein, IEF can be applied in a resource-limiting setting with acceptable reliability.

show abstract

Molecular and hematological profiles of hemoglobin EE disease with different forms of α-thalassemia

et al. 2006

View full text Add to dashboard Cite

We describe hematologic and DNA characterization of hemoglobin (Hb) E homozygote with various forms of alpha-thalassemia in Thai individuals. Altogether, 131 unrelated adult subjects with Hb EE at routine Hb analysis were studied. Forty-two cases were found to carry alpha-thalassemia with ten different genotypes. These included 21 cases with alpha(+)-thalassemia heterozygote (-alpha(3.7)/alphaalpha), one case with alpha(+)-thalassemia heterozygote (-alpha(4.2)/alphaalpha), six cases with Hb Constant Spring heterozygote (alpha(CS)alpha/alphaalpha), four cases with homozygous alpha(+)-thalassemia (-alpha(3.7)/-alpha(3.7)), one case with homozygous alpha(+)-thalassemia (-alpha(4.2)/-alpha(4.2)), two cases with compound alpha(+)-thalassemia/Hb Constant Spring (-alpha(3.7)/alpha(CS)alpha), one case with compound alpha(+)-thalassemia/Hb Paksé (-alpha(3.7)/alpha(PS)alpha), four cases with alpha(0)-thalassemia heterozygote (--(SEA)/alphaalpha), and, unexpectedly, two cases with compound alpha(0)-thalassemia/alpha(+)-thalassemia [(--(SEA)/-alpha(3.7)) and (--(SEA)/-alpha(4.2))]. The hematological expression of these Hb E homozygotes with various forms of alpha-thalassemia was presented comparatively with those of the 89 cases of pure Hb E homozygotes. Overlapping levels of Hb E, Hb F, and other hematological parameters were observed which did not predict clinical severity, indicating a need for alpha-globin gene analysis for accurate diagnosis and improved genetic counseling.

show abstract

Unusual phenotype of Hemoglobin EE with Hemoglobin H disease: a pitfall in clinical diagnosis and genetic counseling

Cited by 4 publications

References 10 publications

Detection of Hb E mutation (β²⁶, GAG‐AAG, Glu‐Lys) using allelic discrimination analysis

Detection of Hb E mutation (β²⁶, GAG‐AAG, Glu‐Lys) using allelic discrimination analysis

Diagnostic applications of newborn screening for α-thalassaemias, haemoglobins E and H disorders using isoelectric focusing on dry blood spots

Molecular and hematological profiles of hemoglobin EE disease with different forms of α-thalassemia

Contact Info

Product

Resources

About

Unusual phenotype of Hemoglobin EE with Hemoglobin H disease: a pitfall in clinical diagnosis and genetic counseling

Cited by 4 publications

References 10 publications

Detection of Hb E mutation (β26, GAG‐AAG, Glu‐Lys) using allelic discrimination analysis

Detection of Hb E mutation (β26, GAG‐AAG, Glu‐Lys) using allelic discrimination analysis

Diagnostic applications of newborn screening for α-thalassaemias, haemoglobins E and H disorders using isoelectric focusing on dry blood spots

Molecular and hematological profiles of hemoglobin EE disease with different forms of α-thalassemia

Contact Info

Product

Resources

About

Detection of Hb E mutation (β²⁶, GAG‐AAG, Glu‐Lys) using allelic discrimination analysis

Detection of Hb E mutation (β²⁶, GAG‐AAG, Glu‐Lys) using allelic discrimination analysis