Hb Moncloa: A new variant of haemoglobin that interferes in the quantification of Hb A1c

Torrejón, María José; Ortiz-Cabrera, Nelmar Valentina; Nieto, Jorge M.; Fernández, Fernando-Ataúlfo González; Villegas, Ana; Martínez, Rafael; Ropero, Paloma

doi:10.1016/j.clinbiochem.2017.04.014

Cited by 6 publications

(6 citation statements)

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“…Screening for the most frequent α-thalassemia mutations as well as gene triplication (α αα anti3.7 ) was performed by multiplex polymerase chain reaction (PCR), followed by reverse hybridization with a commercial kit (Alpha-Globin StripAssay, ViennaLab Diagnostic GmbH, Vienna, Austria) and confirmed by multiplex ligation-dependent probe amplification (MLPA) using a commercial kit (SALSA MLPA KIT P140 HBA; MRC Holland, Amsterdam, The Netherlands). Molecular diagnosis of β-thalassemia was performed by automatic Sanger sequencing according to the previously described ( 10 ).…”

Section: Methodsmentioning

confidence: 99%

β-Thalassemia Intermedia: Interaction of α-Globin Gene Triplication With β-thalassemia Heterozygous in Spain

et al. 2022

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ObjectivesTo verify with hematimetric data that the diagnosis and clinical grade of β-TI can be established when a triplication of alpha genes (αααanti 3.7) and heterozygous β-thalassemia coexist.Materials and MethodsRetrospective study in which 73 patients of Caucasian origin participated, who simultaneously showed a triplication or quadruplication of genes α and β-thalassemia.Screening for the most frequent α-thalassemia mutations as well as gene triplication (αααanti 3.7) was carried out by multiplex PCR followed by reverse hybridization with a commercial Alpha-Globin StripAssay kit and confirmed by MLPA (Multiplex ligation-dependent probe amplification). The molecular diagnosis of β-thalassemia was carried out by automatic sequencing according to the Sanger method.ResultsThe genotypes have been classified into three groups according to the number of α globin genes and the severity of the alteration in the β globin gene. All had a mutation in the HBB gene (β0-thalassemia, β+-thalassemia severe, and β+-thalassemia mild). Group I patients who have coherent 6 α genes and groups II and III with 5 α globin genes. In group III, the patients were carriers of mutations affecting the β and δ globin genes. The most significant hematological parameters were hemoglobin levels, MCV, RDW, and the percentage of Hb F.ConclusionsIn group I, regardless of the distribution of the 6 α globin genes, homozygous triplication (ααα/ααα) or heterozygous quadruplication (αααα/αα), the association with heterozygous β-thalassemia results in severe to moderate anemia that may or may not require transfusion therapy, is the severity of the HBB gene mutation that would determine the clinical variation. Group II patients phenotypically behaved like mild thalassemia intermedia, except for one case that presented thalassemic trait because it also presented an associated α-thalassemia (ααα/-α3.7). Finally, group III patients behaved as a thalassemic trait since all were carriers of mutations that increase the overexpression of γ genes.

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Section: Methodsmentioning

confidence: 99%

β-Thalassemia Intermedia: Interaction of α-Globin Gene Triplication With β-thalassemia Heterozygous in Spain

et al. 2022

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“…La caracterización molecular de la HbS se realizó con el kit comercial β-Globin StripAssay MED (ViennaLab Diagnostic GmbH, Vienna, Austria) y su confirmación mediante secuenciación automática de Sanger del gen β-globina siguiendo el protocolo previamente descrito (11). Los haplotipos del clúster β se obtuvieron mediante amplificación y digestión con enzimas de restricción (PCR-RFLP) según el protocolo descrito por Rahimi et al (12).…”

Section: Enfermedad De Células Falciformesunclassified

Sickle cell disease phenotype. Relationship of haplotypes and polymorphisms in the β cluster, BCL11A and HBS1L-MYB. Pilot study

et al. 2023

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Sickle cell disease (SCD), despite being a monogenic disease, presents a highly variable phenotype that essentially depends on the amount of fetal hemoglobin (HbF), constituting the main modulator of the disease. The variation of HbF levels between patients is genetically regulated. HbF determines both the phenotype of the disease and the response to treatment with the main drug used, hydroxyurea. Researchers’ efforts have focused on discovering the genetic factors responsible for its variation; mainly describing the haplotypes of the β cluster and SNPs in three different loci: BCL11A, HBS1L-MYB and the β-globin cluster. Objective: To determine, in a cohort of patients with SCD, the possible relationship between the number of SNPs and haplotypes with higher levels of HbF. A positive association could explain why certain haplotypes, such as Senegal or Arab-Indian, have higher levels. of HbF and less severe disease. Methods: To verify this hypothesis, the characterization of the haplotypes was carried out using the PCR-RFLP technique and the genotyping of three SNPs representative of the three loci with the greatest association with the variation of HbF: XmnI (rs7482144), BCL11A (rs4671393) and HBS1L-MYB (rs9376092). Results: A greater number of SNPs has been reported in the haplotypes related to higher HbF and a lower number in those with less HbF, although only the SNP XmnI (rs7482144) has shown a statistically significant association. Conclusions: A direct relationship between haplotypes and the number of SNPs has been found, reporting that haplotypes with higher levels of HbF and thus a less severe phenotype, had a greater number of SNPs. Thus, the Benín and Bantu haplotypes traditionally associated with poor prognosis are the ones that have shown a lower number of mutated SNPs.

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“…El cribado de las mutaciones más frecuentes de α-talasemia así como la triplicación génica (ααα anti 3.7 ) se llevó a cabo mediante PCR multiplex seguida de hibridación inversa con un kit comercial Alpha-Globin StripAssay (ViennaLab Diagnostic GmbH, Vienna, Austria) y se confirmó mediante Multiplex Ligationdependent Probe Amplification (MLPA), este análisis se llevó a cabo utilizando el kit MLPA (SALSA MLPA KIT P140 HBA; MRC Holland, Amsterdam, The Netherlands). El diagnóstico molecular de β-talasemia se realizó mediante secuenciación automática según el método de Sanger previamente descrito (10).…”

Section: Introductionunclassified

β-Intermediate Thalasemia: triplication of genes α / β thalassemia heterozygous in Spain

et al. 2021

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Objectives. Check with hematological data that the diagnosis and clinical grade of β-thalassemia intermedia can be established when a triplication of genes alpha (αααanti 3.7) and heterozygous β-thalassemia are coherent. Methods. Retrospective study in which 73 patients of Caucasian origin participated, who simultaneously showed a tripling or quadrupling of the genes α and heterozygous β-thalassemia. Screening for the most frequent α-thalassemia mutations, as well as gene triplication (αααanti 3.7) was carried out by multiplex PCR followed by reverse hybridization and confirmed by MLPA. The molecular diagnosis of β-thalassemia was carried out by automatic sequencing according to the Sanger’s method. Results. Genotypes have been classified into three groups according to the number of α-globin genes and the severity of the alteration in the β-globin gene. All had a mutation in the β-globin gene (β0-thalassemia, severe β+-thalassemia, and mild β+-thalassemia). Group I patients who have inherited 6 α globin genes. Group II and group III have inherited 5 α globin genes. In group III, the patients were carriers of mutations affecting the β and δ globin genes. The most significant hematological parameters were hemoglobin levels, mean corpuscular volume, red deep width, and percentage of fetal hemoglobin. Conclusions. In group I, patients who have inherited of 6 α globin genes, either by homozygous triplication (ααα/ααα) or heterozygous quadruplication (αααα/αα), with heterozygous β-thalassemia results in severe to moderate anemia that may require transfusion therapy, being the severity of the β-globin gene mutation that would determine the clinical variation. Group II patients behaved phenotypically like mild thalassemia intermedia. Finally, group III patients behaved like a thalassemic trait since all were carriers of mutations that increase the overexpression of g genes.

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Hb Moncloa: A new variant of haemoglobin that interferes in the quantification of Hb A1c

Cited by 6 publications

References 5 publications

β-Thalassemia Intermedia: Interaction of α-Globin Gene Triplication With β-thalassemia Heterozygous in Spain

β-Thalassemia Intermedia: Interaction of α-Globin Gene Triplication With β-thalassemia Heterozygous in Spain

Sickle cell disease phenotype. Relationship of haplotypes and polymorphisms in the β cluster, BCL11A and HBS1L-MYB. Pilot study

β-Intermediate Thalasemia: triplication of genes α / β thalassemia heterozygous in Spain

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