HPLC in Characterization of Hemoglobin Profile in Thalassemia Syndromes and Hemoglobinopathies: A Clinicohematological Correlation

Khera, Rachna; Singh, Tejinder; Khuana, Nita; Gupta, Naresh; Dubey, AP

doi:10.1007/s12288-014-0409-x

Cited by 40 publications

(31 citation statements)

References 14 publications

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“…HPLC is often used as an efficient primary screening method to detect abnormal Hb, as was carried out in this study and previous studies. 24 25 In our study, 95.6% (131/137) of HbE carriers were identified by HPLC, and 13 of these individuals had concomitant α-thal deletions.…”

Section: Discussionmentioning

confidence: 52%

Mutation screening for thalassaemia in the Jino ethnic minority population of Yunnan Province, Southwest China

Wang

Zhang

Xiang³

et al. 2015

BMJ Open

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ObjectivesThis study aimed to detect α- and β-thalassaemia mutations in the Jino ethnic minority population of Yunnan Province, Southwest China.DesignA total of 1613 Jino adults were continuously recruited from February 2012 to April 2012. Fasting venous blood samples were obtained to determine haematological variables. Haemoglobin analysis was conducted using high-performance liquid chromatography. Participants with hypochromic microcytic anaemia or positive haemoglobin analysis profiles were confirmed by α- and β-globin genetic testing, including DNA microarray analysis, direct sequencing methods and multiplex gap-PCR assays.SettingShanghai Diabetes Institute, Shanghai Key Laboratory of Diabetes Mellitus, Shanghai Jiao Tong University Affiliated Sixth People's Hospital.ResultsWe found 363 suspected cases by primary screening of haematological variables and haemoglobin analysis. After further genetic testing, four types of α- and β-thalassaemia mutation were detected in 203 out of 363 individuals. Both α0- and α+-thalassaemia mutations, --SEA and -α3.7, were identified. β-Thalassaemia mutations included CD17 (HBB:c.52A>T) and CD26 (HbE or HBB:c.79G>A). In addition, 13 HbE carriers had coexisting α0- or α+-thalassaemia deletions. Clinical haematological variables indicated that, in this study, carriers of all thalassaemic genotypes had more severe hypochromic microcytic anaemia than non-thalassaemic individuals.ConclusionsOur results provide information on the Jino ethnic minority that may be useful for further genetic counselling, prenatal screening and clinical diagnosis of thalassaemia in this region.

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Section: Discussionmentioning

confidence: 52%

Mutation screening for thalassaemia in the Jino ethnic minority population of Yunnan Province, Southwest China

Wang

Zhang

Xiang³

et al. 2015

BMJ Open

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“…[3] Rao et al [5] Singh et al [9] Patel et al [10] Alam et al [8] Chandra-Sekhar et al [11] Gupta et al [7] Mondal et al [12] Khera et al [13] HbS …”

Section: Resultsmentioning

confidence: 99%

“…Table 4 shows the findings of various studies in different regions of India. [3,5,[7][8][9][10][11][12][13] In most of the studies, thalassemia trait is the most common abnormality reported.…”

Section: Discussionmentioning

confidence: 99%

Spectrum of thalassemia and hemoglobinopathies in a tertiary care diagnostic center

Iqbal¹,

Tabassum²,

Chatura³

2016

JCRI

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Context: Hemoglobinopathies and thalassemias are one of the most common genetic abnormalities prevalent in India and the Middle East. Aim: This study was performed to identify the distribution of abnormal types of hemoglobin (Hb) in a tertiary care diagnostic laboratory. Materials and Methods: An observational study was conducted in the Department of Hematology in a tertiary care diagnostic lab of South India to know the prevalence of hemoglobinopathies and thalassemia using high performance liquid chromatography (HPLC) as the diagnostic method. Results: A total of 518 samples were received over a period of 6-month. All 518 samples were processed for HPLC. 407 samples were normal and 111 samples showed abnormal Hb variants. Sickle cell trait (HbS heterozygous) was diagnosed in 56 (10.8%) cases, beta thalassemia minor in 40 (7.72%) cases, and sickle cell disease (HbS homozygous) in 12 (2.5%) cases, thalassemia major in 2 (0.38%) cases and 1 (0.2%) case of hereditary persistence of fetal hemoglobin. Conclusion: One of the best methods emerging for screening and detection of various hemoglobinopathies is HPLC. This study showed that CE-HPLC is a reliable tool in diagnosing the presence of abnormal Hb in suspected cases on routine hematology.

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“…For many years the diagnosis of β-thalassemia both in our Institute laboratory and in other countries, was mainly based on the level of HbA 2 [14,15,16] and α-thalassemia remained undiagnosed.…”

Section: Discussionmentioning

confidence: 99%

Coexistence of hemoglobin Handsworth and alpha 3.7 kb deletion in Caucasian woman in Poland

Klimczak-Jajor

Skulimowska

Ejduk

et al. 2019

Acta Haematologica Polonica

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BackgroundThis report presents a case of an adult Polish women of Caucasian origin who was heterozygous for the nondeletional mutation: Hb Handsworth (HBA2 or HBA1: c.55G > C, p.Gly19Arg) and deletional (-α3.7) α-thalassemia mutation.MethodsThe HbA2 and HbF levels were measured by microcolumn chromatography and alkaline denaturation procedure, respectively, while electrophoresis was used to detect pathological hemoglobin fraction. The β- and α-globin genotypes were determined by DNA sequencing, gap-polymerase chain reaction, α gene triplication and MLPA.ResultsThe HbA2 and HbF levels were normal, but hemoglobin electrophoresis on agarose gel alkaline pH showed a strong band migration in a position of hemoglobin S and faint bands in the neighborhood of band A on acid electrophoresis. Molecular analysis of the alpha globin cluster detected a point mutation at codon 19 in HBA2 (c.55G > C, p.Gl- y19Arg) and deletion -α3.7.ConclusionsOur compound heterozygosity does not produce severe clinical or hematological symptoms but it is important to say that in our part of Europe such cases do appear. Molecular analysis of the alpha globin cluster is required for correct diagnosis in patients with normal HbA2 levels. Compound heterozygosity was unmasked by molecular diagnosis only.

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HPLC in Characterization of Hemoglobin Profile in Thalassemia Syndromes and Hemoglobinopathies: A Clinicohematological Correlation

Cited by 40 publications

References 14 publications

Mutation screening for thalassaemia in the Jino ethnic minority population of Yunnan Province, Southwest China

Mutation screening for thalassaemia in the Jino ethnic minority population of Yunnan Province, Southwest China

Spectrum of thalassemia and hemoglobinopathies in a tertiary care diagnostic center

Coexistence of hemoglobin Handsworth and alpha 3.7 kb deletion in Caucasian woman in Poland

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