Hemoglobin J Lome β 59 (E3) Lys → Asn A new fast moving variant found in a Togolese

Wajcman, Henri; Amegnizin, K.P.E.; Belkhodja, O; Labie, Dominique; Kernemp, R.

doi:10.1016/0014-5793(77)80727-8

Cited by 28 publications

(1 citation statement)

References 17 publications

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“…The present study also found a β-globin variant, Hb J-Lome, which is a fast haemoglobin variant. It was first discovered in 1997 by Wajcman et al in a Black family in Lomé, the capital of Togo 21 ; it has mainly been reported among the populations of Africa, Japan, and Vietnam. In contrast, Hb J-Lome has rarely been reported in China, 22 , 23 and the present study constitutes the third report.…”

Section: Discussionmentioning

confidence: 99%

Genetic investigation of haemoglobinopathies in a large cohort of asymptomatic individuals reveals a higher carrier rate for β-thalassaemia in Sichuan Province (Southwestern China)

Lin

Liu

et al. 2021

Genes & Diseases

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The incidence of haemoglobinopathy is high in China, especially south of the Yangtze River. However, the exact status of haemoglobinopathy in Sichuan is unknown. To carry out a detailed research of haemoglobinopathy in individuals living in Sichuan, 13,298 subjects without clinical symptoms who were living in Sichuan Province, with an age distribution of 5–73 years, were included in this study. Between March 2014 and July 2017, these subjects received examinations at the Medical Lab of Chengdu Women's & Children's Central Hospital. Mean corpuscular volume (MCV) < 82 fL or mean corpuscular haemoglobin (MCH) < 27 pg was used to indicate haemoglobinopathy carriers. Abnormal haemoglobin was screened by electrophoresis, and genes were sequenced to identify genotypes. Genotype diagnosis of alpha- and beta-thalassaemia was carried out by using PCR and shunt hybridization. There were 638 suspected haemoglobinopathy carriers (4.80%, 638/13,298). DNA sequencing identified 6 subjects with abnormal haemoglobin genotypes and 15 subjects with Hb E. The frequency of heterozygosity for thalassaemia was 4.12% (1.48% for α-thalassaemia and 2.61% for β-thalassaemia) in Sichuan Province. The mutation spectrum of α-thalassaemia consisted of the five most common mutations: -- SEA , -α 3.7 , -α 4.2 , α CS , and α QS . Seven types of β-thalassaemia mutation were found in this study: CD41-42 (-TTCT) was the most frequent (28.47%), followed by 17 (A > T), −28 (A > G), and IVS-II-654 (C > T). The main abnormal haemoglobin genotype (HbE) and thalassaemia genotype (-- SEA , CD41-42 (-TTCT)) were consistent with those in other regions of China, but the carrier rate of β-thalassaemia in Sichuan was higher than that of α-thalassaemia.

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Section: Discussionmentioning

confidence: 99%

Genetic investigation of haemoglobinopathies in a large cohort of asymptomatic individuals reveals a higher carrier rate for β-thalassaemia in Sichuan Province (Southwestern China)

Lin

Liu

et al. 2021

Genes & Diseases

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Separation of peptides by cellulose-phosphate chromatography for identification of a hemoglobin variant

Sugihara

Imamura

Yanase

et al. 1982

Journal of Chromatography B: Biomedical Sciences and Applicatio

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Hb A₂-Pasteur-Tunis [δ59(E3)Lys→Asn, AAG→AAC]: A New δ Chain Variant Detected by DNA Sequencing in a Tunisian Carrier of the Codon 39 (C→T) β⁰-Thalassemia Mutation

et al. 2007

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We describe a new delta-globin variant, Hb A2-Pasteur-Tunis [delta59(E3)Lys-->Asn, AAG-->AAC]. This hemoglobin (Hb) displayed an electrophoretic mobility faster than normal Hb A2 and was expressed at 2.2 %. The molecular defect was characterized by DNA sequencing and confirmed by a polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP)-designed protocol. Hb A2-Pasteur-Tunis was found in a carrier of a codon 39 (C-->T) beta0-thalassemia (thal), presenting with a normal Hb A2 level. Phenotype and genotype investigations revealed that the total Hb A2 level of the patient was that expected for a minor beta-thal (4.8%).

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Hemoglobin J Lome β 59 (E3) Lys → Asn A new fast moving variant found in a Togolese

Cited by 28 publications

References 17 publications

Genetic investigation of haemoglobinopathies in a large cohort of asymptomatic individuals reveals a higher carrier rate for β-thalassaemia in Sichuan Province (Southwestern China)

Genetic investigation of haemoglobinopathies in a large cohort of asymptomatic individuals reveals a higher carrier rate for β-thalassaemia in Sichuan Province (Southwestern China)

Separation of peptides by cellulose-phosphate chromatography for identification of a hemoglobin variant

Hb A₂-Pasteur-Tunis [δ59(E3)Lys→Asn, AAG→AAC]: A New δ Chain Variant Detected by DNA Sequencing in a Tunisian Carrier of the Codon 39 (C→T) β⁰-Thalassemia Mutation

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Hemoglobin J Lome β 59 (E3) Lys → Asn A new fast moving variant found in a Togolese

Cited by 28 publications

References 17 publications

Genetic investigation of haemoglobinopathies in a large cohort of asymptomatic individuals reveals a higher carrier rate for β-thalassaemia in Sichuan Province (Southwestern China)

Genetic investigation of haemoglobinopathies in a large cohort of asymptomatic individuals reveals a higher carrier rate for β-thalassaemia in Sichuan Province (Southwestern China)

Separation of peptides by cellulose-phosphate chromatography for identification of a hemoglobin variant

Hb A2-Pasteur-Tunis [δ59(E3)Lys→Asn, AAG→AAC]: A New δ Chain Variant Detected by DNA Sequencing in a Tunisian Carrier of the Codon 39 (C→T) β0-Thalassemia Mutation

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Hb A₂-Pasteur-Tunis [δ59(E3)Lys→Asn, AAG→AAC]: A New δ Chain Variant Detected by DNA Sequencing in a Tunisian Carrier of the Codon 39 (C→T) β⁰-Thalassemia Mutation