Hemoglobin Constant Spring (Hb CS) Missed by HPLC in an Hb E Trait Pregnancy Resulting in Hb H-CS Disease in a Thai Girl: Utility of Capillary Electrophoresis

Pornprasert, Sakorn; Saoboontan, Supansa; Wiengkum, Thanatcha

doi:10.1007/s12288-015-0532-3

Cited by 5 publications

(2 citation statements)

References 15 publications

(17 reference statements)

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“…Therefore, using a higher sensitivity method, such as capillary electrophoresis, can provide potential benefits in areas with a high prevalence of Hb Constant Spring. Additionally, molecular analysis for the detection of Hb Constant Spring should be performed as a form of diagnostic confirmation [ 14 , 15 ]. In our case, the Hb Constant Spring peak was not identifiable and was potentially obscured by the presence of the Hb Jax peak, which shares the same retention time.…”

Section: Discussionmentioning

confidence: 99%

Compound Heterozygosity of Hemoglobin Jax (HBA2:c.44G>C) and Hemoglobin Constant Spring (HBA2:c.427T>C) Resulting in Microcytic Anemia in a Thai Woman

Srichairatanakool,

Chai-Adisaksopha,

Tantiworawit

et al. 2024

Am J Case Rep

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Patient: Female, 59-year-old Final Diagnosis: Compound heterozygosity of hemoglobin Jax and hemoglobin Constant Spring Symptoms: Anemia Clinical Procedure: — Specialty: Hematology Objective: Rare disease Background: Thalassemia and hemoglobin (Hb) variants are the most common hereditary red blood cell disorders worldwide. Alpha-thalassemia and alpha-globin variants are caused by mutations of the alpha-globin genes ( HBA2 and HBA1 ), resulting in impaired alpha-globin production and structurally abnormal globin, respectively. Clinical severity of alpha-thalassemia correlates with the number of affected alpha-globin genes, yielding a spectrum of clinical manifestations from mild to severe anemia. Routine diagnosis involves Hb analysis and PCR-based methods, yet identifying rare variants necessitates comprehensive clinical and hematologic laboratory data. The knowledge of phenotype and genotype correlation is useful for genetic counseling and treatment planning. Case Report: A 59-year-old Thai woman presented with chronic anemia. Her baseline Hb level ranged between 8.0 and 9.0 g/dL, with no history of transfusion. Physical examination showed mild pallor, without enlarged liver and spleen. Laboratory investigations showed microcytic, hypochromic anemia and abnormal Hb peak by Hb analysis (retention time 4.58 min by HPLC method). Common alpha-globin gene deletions, including the Southeast-Asian/Thai 3.7 kb and 4.2 kb deletions were tested using gap-PCR, with none of these deletions detected. Direct DNA sequencing revealed a compound heterozygosity of Hb Jax ( HBA2 : c.44G>C) and Hb Constant Spring ( HBA2 : c.427T>C). Conclusions: Compound heterozygosity of Hb Jax and Hb Constant Spring results in microcytic anemia. Hb Jax can be identified by Hb analysis, and diagnosis can be confirmed by direct DNA sequencing method. Coinheritance of Hb Jax and alpha-globin variants should be considered in cases with microcytic anemia and a specific Hb peak seen in Hb chromatogram.

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Section: Discussionmentioning

confidence: 99%

Compound Heterozygosity of Hemoglobin Jax (HBA2:c.44G>C) and Hemoglobin Constant Spring (HBA2:c.427T>C) Resulting in Microcytic Anemia in a Thai Woman

Srichairatanakool,

Chai-Adisaksopha,

Tantiworawit

et al. 2024

Am J Case Rep

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“…Each of the confirmation tests mentioned has its limitation, necessitating a combination of a few tests for differential diagnosis of α and β-thalassaemia. For instance, HPLC is not sufficient to discreetly detect variants as it is not sensitive and specific enough for an α-thalassaemia detection, especially in the presence of haemoglobin Constant Spring (non-deletion α-thalassaemia), indicated by the presence of a very tiny peak of Hb that is often missed [10,11]. In contrast, it is seen on the capillary electrophoresis (CE) electropherogram.…”

Section: Introductionmentioning

confidence: 99%

A Novel Algorithm Using Cell Population Data (VCS Parameters) as a Screening Discriminant between Alpha and Beta Thalassemia Traits

Angeli

Sahibon²,

Yang³

et al. 2021

Diagnostics

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Thalassemia is one of the major inherited haematological disorders in the Southeast Asia region. This study explored the potential utility of red blood cell (RBC) parameters and reticulocyte cell population data (CPD) parameters in the differential diagnosis of α and β-thalassaemia traits as a rapid and cost-effective tool for screening of thalassemia traits. In this study, a total of 1597 subjects (1394 apparently healthy subjects, 155 subjects with α-thalassaemia trait, and 48 subjects with β-thalassaemia trait) were accrued. The parameters studied were the RBC parameters and reticulocyte CPD parameters derived from Unicel DxH800. A novel algorithm named αβ-algorithm was developed: (MN-LMALS-RET × RDW) − MCH) to discriminate α from β-thalassaemia trait with a cut-off value of 1742.5 [AUC = 0.966, sensitivity = 92%, specificity = 90%, 95% CI = 0.94–0.99]. Two prospective studies were carried: an in-house cohort to assess the specificity of this algorithm in 310 samples comprising various RBC disorders and in an interlaboratory cohort of 65 α-thalassemia trait, and 30 β-thalassaemia trait subjects to assess the reproducibility of the findings. We propose the αβ-algorithm to serve as a rapid, inexpensive surrogate evaluation tool of α and β-thalassaemia in the population screening of thalassemia traits in geographic regions with a high burden of these inherited blood disorders.

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Direct PCR assays without DNA extraction for rapid detection of hemoglobin Constant Spring and Pakse' genes: application for carrier screening and prenatal diagnosis

Wichian

Yamsri

Chaibunruang

et al. 2021

Scandinavian Journal of Clinical and Laboratory Investigation

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Hemoglobin Constant Spring (Hb CS) Missed by HPLC in an Hb E Trait Pregnancy Resulting in Hb H-CS Disease in a Thai Girl: Utility of Capillary Electrophoresis

Cited by 5 publications

References 15 publications

Compound Heterozygosity of Hemoglobin Jax (HBA2:c.44G>C) and Hemoglobin Constant Spring (HBA2:c.427T>C) Resulting in Microcytic Anemia in a Thai Woman

Compound Heterozygosity of Hemoglobin Jax (HBA2:c.44G>C) and Hemoglobin Constant Spring (HBA2:c.427T>C) Resulting in Microcytic Anemia in a Thai Woman

A Novel Algorithm Using Cell Population Data (VCS Parameters) as a Screening Discriminant between Alpha and Beta Thalassemia Traits

Direct PCR assays without DNA extraction for rapid detection of hemoglobin Constant Spring and Pakse' genes: application for carrier screening and prenatal diagnosis

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