Quantification of hemoglobin Constant Spring in heterozygote and homozygote by a capillary electrophoresis method

Pornprasert, Sakorn; Panyasai, Sitthichai; Waneesorn, Jarurin; Kongthai, Kanyakan; Singboottra, Panthong

doi:10.1111/j.1751-553x.2011.01371.x

Cited by 9 publications

(7 citation statements)

References 10 publications

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“…The corrected Hb CS levels could be used for screening of heterozygote or homozygote for Hb CS. Consistency with the previous study indicated that the level of Hb CS quantified by CE proved useful in screening of heterozygote and homozygote for Hb CS [9]. In conclusion, the co-inheritance of Hb Hope and heterozygote or homozygote for Hb CS can be found in the Thai population.…”

Section: Discussionsupporting

confidence: 86%

“…The a-thalassemia-1 SEA and Thai type deletions were detected by using realtime PCR with SYBR Green1 high resolution melting (HRM) analysis as previously described [8]. Moreover, the molecular confirmation tests for Hb Hope and Hb CS were performed by using the amplification refractory mutation system (ARMS)-PCR analysis as reported elsewhere [6,9].…”

Section: Molecular Analysis For Diagnosis Of Thalassemia and Hemoglobmentioning

confidence: 99%

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Detection of Co-inheritance of Hb Hope and Hb Constant Spring in Three Thai Samples by Capillary Electrophoresis

Panyasai

Pornprasert

2015

Indian J Hematol Blood Transfus

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The diagnosis of co-inheritance of Hb Hope [b136(H14)Gly ? Asp, GGT [ GAT] and Hb constant spring [Hb CS; a142, Term ? Gln (TAA [ CAA IN a2)] by high performance liquid chromatography (HPLC) is difficult because Hb Hope has a HPLC elution pattern similar to that of Hb Pyrgos, Hb New York, Hb Kodaira, and Hb Phimai. Moreover, the Hb CS mRNA, as well as the gene product, are unstable and present at a low level in peripheral blood. We report the use of a capillary electrophoresis (CE) for diagnosis of co-inheritance of Hb Hope and Hb CS in 3 Thai females who had mild anemia with Hb and Hct varying from 91-114 g/L to 0.28-0.36 L/ L, respectively. Hb Hope eluted with a retention time of 125-140 s (Zone 10) of CE electrophoregram. Furthermore, the peak of Hb CS at the retention time of 245-250 s (Zone 2) was observed in these samples. In addition, the manual analysis by taking the non-black area under both peaks of HbA and Hb Hope (inverted V) into account provided the corrected Hb CS levels which are useful in screening of heterozygote or homozygote for Hb CS. Thus, the CE method provides an accurate diagnosis of Hb Hope and Hb CS which is useful in genetic counseling, prevention and control programs for these hemoglobinopathies.

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Section: Discussionsupporting

confidence: 86%

Section: Molecular Analysis For Diagnosis Of Thalassemia and Hemoglobmentioning

confidence: 99%

Detection of Co-inheritance of Hb Hope and Hb Constant Spring in Three Thai Samples by Capillary Electrophoresis

Panyasai

Pornprasert

2015

Indian J Hematol Blood Transfus

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“…The levels of Hb CS in the groups with b-thal trait and Hb E trait varied from 0.1-2.8 and 0.1-2.3%, respectively (Table 1). Two cases had Hb CS levels higher than 2.0%, thus, they were subjected to ARMS analysis (17) in order to provide a rapid molecular diagnosis of heterozygous and homozygous Hb CS. The amplified fragments from the Hb CS allele with the 180 bp but not from a normal allele were observed (data not shown), indicating that these two samples were Hb CS homozygotes.…”

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confidence: 99%

Detection of Hb Constant Spring (HBA2: c.427T>C) Heterozygotes in Combination withβ-Thalassemia or Hb E Trait by Capillary Electrophoresis

2015

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Hb Constant Spring (Hb CS; HBA2: c.427T>C) is often missed by routine laboratory testing as its mRNA as well as gene product are unstable and presented at a low level in peripheral blood. This study aimed to analyze the efficacy of capillary electrophoresis (CE) for detecting and quantifying of Hb CS in β-thalassemia (β-thal) trait or Hb E (HBB: c.79G>A) trait samples with reduced β-globin chain expression. Thalassemia diagnostic data were reviewed in 2524 blood samples that were submitted to the laboratory of the Associated Medical Sciences Clinical Service Center, Chiang Mai, Thailand for hemoglobinopathy and thalassemia diagnosis. DNA analysis for Hb CS was performed in 322 β-thal trait and 397 Hb E trait samples using the amplification refractory mutation system (ARMS). The CE electropherogram of Hb CS at zone 2 was observed in all five samples with β-thal trait and nine samples with Hb E trait with levels varying from 0.1-2.8 and 0.1-2.3%, respectively. Thus, the CE method proved useful for screening of Hb CS in samples with β-thal trait or Hb E trait, which is essential for providing accurate diagnosis, genetic counseling, prevention and control programs of Hb H-CS disease.

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“…However, the degraded HbCS peak was not found on CE eletropherogram of the fresh whole blood of these samples. Therefore, the lyophilized Hb typing control material should be prepared from the blood samples of homozygous of HbCS or HbH-CS disease which contain a high level of HbCS than those of heterozygous HbCS [19]. The most common adult Hb is HbA (95%) which consists of 2 α-and 2 β-globin chains (α 2 β 2 ) and their production being governed by four α-genes (2 α1-genes and 2 α2-genes) and two β-genes, respectively [20].…”

Section: Discussionmentioning

confidence: 99%

Development of hemoglobin typing control materials for laboratory investigation of thalassemia and hemoglobinopathies

Pornprasert

Tookjai

Punyamung

et al. 2016

Clinical Chemistry and Laboratory Medicine (CCLM)

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Quantification of hemoglobin Constant Spring in heterozygote and homozygote by a capillary electrophoresis method

Abstract: CE is the preferable method for screening of heterozygote and homozygote of Hb CS. Moreover, in conjunction with a lower MCV (<70 fL), this approach provided a high resolution to identify Hb H-CS disease.

Cited by 9 publications

References 10 publications

Detection of Co-inheritance of Hb Hope and Hb Constant Spring in Three Thai Samples by Capillary Electrophoresis

Detection of Co-inheritance of Hb Hope and Hb Constant Spring in Three Thai Samples by Capillary Electrophoresis

Detection of Hb Constant Spring (HBA2: c.427T>C) Heterozygotes in Combination withβ-Thalassemia or Hb E Trait by Capillary Electrophoresis

Development of hemoglobin typing control materials for laboratory investigation of thalassemia and hemoglobinopathies

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