Hemoglobin Q-Thailand related disorders: Origin, molecular, hematological and diagnostic aspects

Singsanan, Sanita; Karnpean, Rossarin; Fucharoen, Goonnapa; Sanchaisuriya, Kanokwan; Sae-ung, Nattaya; Fucharoen, Supan

doi:10.1016/j.bcmd.2010.06.001

Cited by 30 publications

(24 citation statements)

References 22 publications

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“…Peak of Hb H and Hb Bart's were not found on HPCL and CE analysis. The previous studies showed that patients with compound heterozygous of Hb CS and Hb Q-Thailand had mild hypochomic microscytic anemia [4,15] and it was consistent with the present study which showed that a patient had low levels of Hb and MCV. However, patients in the present study had a higher MCV than the patients with the compound heterozygous of Hb CS and Hb Q-Thailand who were reported by Singsanan et al, and it was quite similar to the MCV of 26 patients with heterozygous of Hb Q-Thailand [4].…”

Section: Discussionsupporting

confidence: 93%

“…Thus, a lower MCV might be due to the iron deficiency. Interestingly, a patient with compound heterozygous of Hb CS and Hb Q-Thailand had a level of Hb Q-Thailand [40.0 % which is higher than the heterozygous of Hb Q-Thailand [4]. A higher level of Hb Q-Thailand in the patient with compound heterozygous of Hb CS and Hb Q-Thailand could be explained by the defect of the three a-globin gene synthesis.…”

Section: Discussionmentioning

confidence: 98%

“…The molecular analysis for detection of a-thalassemia-1 Southeast Asian (SEA) type deletion and Hb CS was performed by using real-time PCR with SYBR Green1 high resolution melting (HRM) analysis as previously described [13,14]. The multiple allele specific polymerase chain reaction (ASPCR) was also performed for molecular diagnosis of Hb Q-Thailand as previously described [4,15].…”

Section: Dna Preparation and Molecular Analysismentioning

confidence: 99%

“…His, GAC [ CAC) at codon 74 of the a1-globin gene on chromosome 16p with a leftward single a-globin gene deletion (-a 4.2 ). Because of the linked (-a 4.2 ) a-thalassemia-2 allele, heterozygous or homozygous of Hb Q-Thailand usually shows slight anemia with a few red blood cell microcytosis [4]. Co-inheritance with a-thalassemia-1 leads to a clinical phenotype of the Hb Q-H disease with clinical features similar to the deletional Hb H disease [4,5].…”

Section: Introductionmentioning

confidence: 99%

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Detection of Compound Heterozygous of Hb Constant Spring and Hb Q-Thailand by Capillary Electrophoresis and High Performance Liquid Chromatography

Pornprasert

Punyamung

2014

Indian J Hematol Blood Transfus

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A capillary electrophoresis (CE) has proven to be superior to a high performance liquid chromatography (HPLC) in the detection of hemoglobin Constant Spring (Hb CS). Thus the aim of this study was to analyze the efficacy of CE and HPLC for the detection of Hb CS in samples with compound heterozygous of Hb CS and Hb Q-Thailand. Hemoglobin analysis was performed in blood samples of 2 patients with compound heterozygous of Hb CS and Hb Q-Thailand by using HPLC and CE. The HPLC chromatogram and CE electrophoregram of the two techniques were compared. Hb CS was not found on HPLC chromatogram while Hb QA 2 (a 2 QT d 2 ), a derivative of Hb Q-Thailand, was presented at the retention time of 4.70-4.80 min and it was close to the retention time of Hb CS. On CE electrophoregram, Hb CS was presented at zone 2 (Z2) and it was distinctly separated from Hb QA 2 which was presented at Z1. Therefore, CE was more efficient to the HPLC for diagnosis of compound heterozygous of Hb CS and Hb Q-Thailand.

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Section: Discussionsupporting

confidence: 93%

Section: Discussionmentioning

confidence: 98%

Section: Dna Preparation and Molecular Analysismentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

See 2 more Smart Citations

Detection of Compound Heterozygous of Hb Constant Spring and Hb Q-Thailand by Capillary Electrophoresis and High Performance Liquid Chromatography

Pornprasert

Punyamung

2014

Indian J Hematol Blood Transfus

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“…This leads to a production of small amount of Hb Bart's which could be detected by the IC strip assay, but not by the automated Hb analyzer. 23 The relatively high proportions of false positives caused by other thalassaemias, especially a þ -thalassaemia, indicate that using the IC strip assay for Hb Bart's directly as a primary screening test could be problematic. In general, the frequency of a þ -thalassaemia is much higher than that of a 0 -thalassaemia; overall frequencies of 0.107 for a þ -thalassaemia and 0.029 for a 0 -thalassaemia have been reported in the northeast Thai population.…”

Section: 21mentioning

confidence: 99%

Routine screening for α-thalassaemia using an immunochromatographic strip assay for haemoglobin Bart's

Prayalaw

Fucharoen

2014

J Med Screen

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Objective: To evaluate an immunochromatographic (IC) strip assay for Hb Bart's as a routine screening test for a-thalassaemia in area with a high prevalence of thalassaemia and haemoglobinopathies. Methods: A total of 300 adult screen positive blood specimens were collected at an ongoing thalassaemia screening programme in northeast Thailand. Routine screening was done using red blood cell indices, osmotic fragility, and dichlorophenolindophenol tests. The IC strip assay for haemoglobin Bart's was performed on all samples. The result was evaluated against thalassaemia genotypes determined using standard haemoglobin and DNA analyses. Results: Of 300 subjects investigated, Hb and DNA analyses identified 32 with normal genotype. The remaining subjects carried thalassaemia with as many as 16 different genotypes. Hb Bart's was detected in all cases, with several a 0 -thalassaemia (SEA type) related disorders. Of cases with a þ -thalassaemia, 86.1% showed a positive result; 100 out of 103 Hb E carriers, all homozygous Hb E and b-thalassaemia trait were negative. Nine out of 17 cases with b-thalassaemia/Hb E disease, and one case of double heterozygote for Hb Q-Thailand and Hb E returned positive results. The overall sensitivity and specificity of the IC strip assay for detecting a 0 -thalassaemia were 100% and 73.1%, respectively. Conclusion: The results showed a high sensitivity for screening for a 0 -thalassaemia using IC strip assay for Hb Bart's. This simple method, used in combination with conventional screening protocols, should lead to a significant reduction in the number of referral cases for DNA analysis. Cost effectiveness in each population should be taken into consideration.

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The first validated criteria for effective screening and a new simplified method for α-globin gene sequencing for diagnosis of uncommon α-globin mutations

et al. 2017

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No well-defined phenotypes that distinguish between unknown α- and β-globin mutations have been reported to date. Direct DNA sequencing of α-globin genes can be technically challenging, as α1- and α2-globin genes are nearly indistinguishable. To detect hemoglobin variants (HbXs) on Hb analysis, the entire β- and α-globin genes were directly sequenced using a newly developed sequencing protocol for α-globin genes. An algorithm to distinguish between α- and β-HbXs was constructed and subsequently validated in the independent validation group. Distinctive characteristics that can distinguish 39 α-HbXs from 24 β-HbXs were the presence of unidentifiable variants of HbA and/or HbX of <37% on isoelectric focusing and <31% on high-performance liquid chromatography. Another set of 67 HbXs was employed to validate our algorithm. This accurately predicted 33 α-HbXs with 100% sensitivity and 97.1% specificity. Our sequencing protocol for α-globin genes was able to identify 11 rare mutations among all exons of both α-globin genes from 72 subjects. Six of these variants were first discovered in Thais. This is the first well-characterized algorithm for distinguishing unknown Hb variants in a large cohort. Our validated criteria and DNA sequencing procedure are highly efficient for molecular characterization of rare Hb mutations.

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Hemoglobin Q-Thailand related disorders: Origin, molecular, hematological and diagnostic aspects

Cited by 30 publications

References 22 publications

Detection of Compound Heterozygous of Hb Constant Spring and Hb Q-Thailand by Capillary Electrophoresis and High Performance Liquid Chromatography

Detection of Compound Heterozygous of Hb Constant Spring and Hb Q-Thailand by Capillary Electrophoresis and High Performance Liquid Chromatography

Routine screening for α-thalassaemia using an immunochromatographic strip assay for haemoglobin Bart's

The first validated criteria for effective screening and a new simplified method for α-globin gene sequencing for diagnosis of uncommon α-globin mutations

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