Utility of family studies in diagnosing abnormal hemoglobins/thalassemic states

Rangan, Aruna; Handoo, Anil; Sinha, Shandip Kumar; Saxena, Renu; Verma, I. C.; Kumar, Surender; Sk, Sood; Bhargava, Manorama

doi:10.1007/s12098-009-0082-5

Cited by 6 publications

(5 citation statements)

References 8 publications

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“…HbE, α- and β-thalassemia traits were identified using cation exchange high performance liquid chromatography, using methods described elsewhere [ 14 , 15 ]. The α-thalassemia trait was confirmed by multiplex gap polymerase chain reaction [ 16 , 17 ], and glucose-6-phosphate dehydrogenase (G6PD) deficiency by fluorescent spot test [ 18 ].…”

Section: Methodsmentioning

confidence: 99%

Hemoglobin E Prevalence among Ethnic Groups Residing in Malaria-Endemic Areas of Northern Thailand and Its Lack of Association with Plasmodium falciparum Invasion In Vitro

et al. 2016

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Hemoglobin E (HbE) is one of the most common hemoglobin variants caused by a mutation in the β-globin gene, and found at high frequencies in various Southeast Asian groups. We surveyed HbE prevalence among 8 ethnic groups residing in 5 villages selected for their high period malaria endemicity, and 5 for low endemicity in northern Thailand, in order to uncover factors which may affect genetic persistence of HbE in these groups. We found the overall HbE prevalence 6.7%, with differing frequencies from 0% in the Pwo Karen, the Lawa, and the Skaw Karen to 24% in the Mon. All HbE genes were heterozygous (AE). Differences in HbE prevalence among the studied ethnic groups indirectly documents that ancestries and evolutionary forces, such as drift and admixture, are the important factors in the persistence of HbE distribution in northern Thailand. Furthermore, the presence of HbE in groups of northern Thailand had no effect on the in vitro infectivity and proliferation of Plasmodium falciparum, nor the production of hemozoin, a heme crystal produced by malaria parasites, when compared to normal red-blood-cell controls. Our data may contribute to a better understanding on the persistence of HbE among ethnic groups and its association with malaria.

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Section: Methodsmentioning

confidence: 99%

Hemoglobin E Prevalence among Ethnic Groups Residing in Malaria-Endemic Areas of Northern Thailand and Its Lack of Association with Plasmodium falciparum Invasion In Vitro

et al. 2016

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“…The diagnosis of hemoglobin synthesis disorders can be seen ideally only by DNA analysis but, in Indian scenario with paucity of funds and resources, family studies on HPLC could be alternative tool. Family study is an equally efficacious and cost-effective tool [4].…”

Section: Classification Of Casesmentioning

confidence: 99%

Importance of Family Studies with High Performance Liquid Chromatography (HPLC) in Hemoglobin Disorders: An analysis of 37 Families

Mahesh¹,

R²,

Shruti³

et al. 2020

Int J Pathol Clin Res

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The hemoglobin inherited disorders are one of the commonest single-gene disorders in man. Frequency of carriers of hemoglobinopathies varies from 3 to 17% in India. It is estimated that around 5.35% in India are the trait of Sickle cell, hemoglobin D, and hemoglobin E. However, the definite identification of disorders of hemoglobin synthesis can be achieved only by DNA analysis. In Indian scenario, family studies can be equally efficacious and cost-effective tool on HPLC and might be useful. This is a prospective study of 28 months. Total 37 families comprising of 114 family members were studied. Patients attending OPD and indoor admissions of institute with anemia, hepatosplenomegaly, showing sickling test and/or fetal fraction positive were included in the study along with their family members.

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“…Family HPLC screening also helped in some difficult cases especially in double heterozygous states like HbE thalassemia and HbS thalassemia. Role of family studies has been emphasized by other studies also [2].…”

Section: Retention Times and Proportions Of Haemoglobin Variantsmentioning

confidence: 99%

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

Khera

Singh

Khuana

et al. 2014

Indian J Hematol Blood Transfus

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High-performance liquid chromatography (HPLC) is a technique introduced for the accurate diagnosis of hemoglobinopathies and thalassemias. The advantage of the HPLC system is the excellent resolution, reproducibility & quantification of several normal & abnormal hemoglobin resulting in accurate diagnosis of thalassemia syndromes. The purpose of this study is to evaluate the HPLC technique in diagnosis of thalassemia syndromes and also correlate it with clinicohematological profile in these cases. A total of 110 cases were diagnosed as thalassemias and hemoglobinopathies by Bio- Rad variant II HPLC system by β-thal short program. The retention times, proportion of the haemoglobin (%), and peak characteristics for all hemoglobin (Hb) fractions were recorded. Alkaline Hb electrophoresis was performed in each case. Other tests performed were HbF estimation by Betke's method, brilliant cresyl blue preparation for HbH inclusion bodies, sickling tests using 2 % metabisulphite and serum Ferritin estimation. Family studies were carried out wherever necessary. Of 110 cases included in the study, 87 cases were of thalassemic disorders and 23 cases were of hemoglobinopathies. Four Hb variants were identified including HbD, HbE, HbS, HbJ Oxford. There was a significant decrease in the level of HbA2 associated with iron deficiency anemia. The mean HbA2 levels in both iron deplete and iron replete groups were clearly >4 %, suggesting that HPLC identified nearly all high HbA2 β-thalassemia trait even in spite of iron deficiency.

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Utility of family studies in diagnosing abnormal hemoglobins/thalassemic states

Abstract: In centers, which do not have the facility for genetic analysis, family studies by HPLC can be equally useful.

Cited by 6 publications

References 8 publications

Hemoglobin E Prevalence among Ethnic Groups Residing in Malaria-Endemic Areas of Northern Thailand and Its Lack of Association with Plasmodium falciparum Invasion In Vitro

Hemoglobin E Prevalence among Ethnic Groups Residing in Malaria-Endemic Areas of Northern Thailand and Its Lack of Association with Plasmodium falciparum Invasion In Vitro

Importance of Family Studies with High Performance Liquid Chromatography (HPLC) in Hemoglobin Disorders: An analysis of 37 Families

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

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