Haemoglobinopathies that occur with decreased HbA<sub>2</sub>levels: a gene mutation set involving the δ gene at a Spanish centre

Villegas, Ana; González, Fernando; Nieto, Jorge M.; Fuente-Gonzalo, Félix de la; Martínez, Rafael; Torrejón, María José; Ropero, Paloma

doi:10.1136/jclinpath-2016-203879

Cited by 5 publications

(3 citation statements)

References 17 publications

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“…The widespread use of capillary electrophoresis in routine laboratory test to separate and quantify Hb fractions facilitated the diagnosis of δ‐thalassemia (Villegas et al, ). The frequency of δ‐thalassemia in the Yunnan population is 0.49%, which is higher than other populations in Southern China (0.4%, 152/40,863) (Liu et al, ).…”

Section: Discussionmentioning

confidence: 99%

Analysis of deletional hereditary persistence of fetal hemoglobin/δβ‐thalassemia and δ‐globin gene mutations in Southerwestern China

Zhang

Yang

et al. 2019

Molec Gen & Gen Med

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Background Deletional hereditary persistence of fetal hemoglobin (HPFH)/δβ‐thalassemia and δ‐thalassemia are rare inherited disorders which may complicate the diagnosis of β‐thalassemia. The aim of this study was to reveal the frequency of these two disorders in Southwestern China. Methods A total of 33,596 subjects were enrolled for deletional HPFH/δβ‐thalassemia, and positive individuals with high fetal hemoglobin (Hb F) level were diagnosed by multiplex ligation‐dependent probe amplification (MLPA). A total of 17,834 subjects were analyzed for mutations in the δ‐globin gene. Positive samples with low Hb A2 levels were confirmed by δ‐globin gene sequencing. Furthermore, the pathogenicity and construction of a selected δ‐globin mutation were analyzed. Results A total of 92 suspected cases with Hb F ≥5.0% were further characterized by MLPA. Eight different deletional HPFH/δβ‐thalassemia were observed at a frequency of 0.024%. In addition, 195 cases suspected to have a δ‐globin gene mutation (Hb A2 ≤2.0%) were characterized by molecular analysis. δ‐Globin gene mutation was found at a frequency of 0.49% in Yunnan. The pathogenicity and construction for a selected δ‐globin mutation was predicted. Conclusion Screening of these two disorders was analyzed in Southwestern China, which could define the molecular basis of these conditions in this population.

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Section: Discussionmentioning

confidence: 99%

Analysis of deletional hereditary persistence of fetal hemoglobin/δβ‐thalassemia and δ‐globin gene mutations in Southerwestern China

Zhang

Yang

et al. 2019

Molec Gen & Gen Med

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“…We also evaluated the HbA2 levels in individuals without SCT to analyse α-thalassemia in these individuals. HbA2 levels ≤2.5% is one of the indicators of α-thalassemia according to several studies [20,21]. This rate limit is not applicable to individuals with SCT, as we showed that AS individuals had a high level of HbA2.…”

Section: Hbs and Hba2 Levels And Thalassemia Frequenciesmentioning

confidence: 60%

Haemoglobin F, A2, and S levels in subjects with or without sickle cell trait in south-eastern Gabon

et al. 2017

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“…Certain structural Hb variants may also reduce the level of HbA2 at varying degrees. 44 The patients with abnormally low HbA2 had higher levels of some minor components in areas designated for HbA1a, and HbA1b, HbA1c, which are post-translational modifications of the major haemoglobin component A0. Since HbSS individuals do not have HbA0, these may represent unidentified modified variants of HbS which compete with HbA2 for the alpha chain.…”

Section: Haemoglobins F and A2 In The Study Populationmentioning

confidence: 96%

THE EFFECT OF ALPHA THALASSEMIA, HBF and HBC ON HAEMATOLOGICAL PARAMETERS OF SICKLE CELL DISEASE PATIENTS IN IBADAN, NIGERIA.

Fasola

Babalola

Brown

et al. 2022

Mediterr J Hematol Infect Dis

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Background: Sickle cell disease is a protean disease with limited data on the phenotypic and genetic variants in Nigeria. This study was conducted to provide baseline data on these variants by characterizing the existing forms of sickle cell disease and correlating these with basic hematological parameters. Methods: Adult and pediatric patients with SCD were recruited from a tertiary health centre in Nigeria. Patients were age and sex matched with healthy controls. Blood samples were obtained for Full Blood Count, phenotyping by High Performance Liquid Chromatography and genotyping for alpha thalassemia by multiplex gap polymerase chain reaction. Data analysis was done using IBM SPSS statistics version 23. Results: A total of 130 patients with sickle cell disease and 117 controls were studied. Alpha thalassemia in the study population was due to a 3.7kb deletion in the alpha globin gene cluster at a prevalence of 45.4% in the patients and 47% in controls. The prevalence of the various existing forms of SCD genotype was: Homozygous S without alpha gene deletion (HbSS)- 39.2%; HbSC - 10.8%; HbSα+1- 35.4%; HbSα+2 - 6.9% and HbSF- 7.7%. HbA2 was significantly elevated in individuals with two alpha gene deletions (HbSα+2). HbF and HbA2 were negatively correlated with each other (r= -0.587, p < 0.001). Individuals with the HbSC genotype followed by HbSα+2 had the best hematological parameters. Conclusions: Hematological parameters varied with hemoglobin genotype. The C hemoglobin and homozygous alpha thalassemia deletion had better ameliorating effect on SCD hematological parameters than the F hemoglobin in this population.

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Haemoglobinopathies that occur with decreased HbA₂levels: a gene mutation set involving the δ gene at a Spanish centre

Cited by 5 publications

References 17 publications

Analysis of deletional hereditary persistence of fetal hemoglobin/δβ‐thalassemia and δ‐globin gene mutations in Southerwestern China

Analysis of deletional hereditary persistence of fetal hemoglobin/δβ‐thalassemia and δ‐globin gene mutations in Southerwestern China

Haemoglobin F, A2, and S levels in subjects with or without sickle cell trait in south-eastern Gabon

THE EFFECT OF ALPHA THALASSEMIA, HBF and HBC ON HAEMATOLOGICAL PARAMETERS OF SICKLE CELL DISEASE PATIENTS IN IBADAN, NIGERIA.

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Haemoglobinopathies that occur with decreased HbA2levels: a gene mutation set involving the δ gene at a Spanish centre

Cited by 5 publications

References 17 publications

Analysis of deletional hereditary persistence of fetal hemoglobin/δβ‐thalassemia and δ‐globin gene mutations in Southerwestern China

Analysis of deletional hereditary persistence of fetal hemoglobin/δβ‐thalassemia and δ‐globin gene mutations in Southerwestern China

Haemoglobin F, A2, and S levels in subjects with or without sickle cell trait in south-eastern Gabon

THE EFFECT OF ALPHA THALASSEMIA, HBF and HBC ON HAEMATOLOGICAL PARAMETERS OF SICKLE CELL DISEASE PATIENTS IN IBADAN, NIGERIA.

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Haemoglobinopathies that occur with decreased HbA₂levels: a gene mutation set involving the δ gene at a Spanish centre