A silent hemoglobin variant: hemoglobin necker enfants-malades alpha 20 (B1) His leads to Tyr

Improvements in phenotype studies of hemoglobin disorders brought by advances in reversed-phase chromatography of globin chains.

International journal of laboratory hematology·2014

Use of combined mass spectrometry methods for the characterization of a new variant of human hemoglobin: The double mutant hemoglobin villeparisis β77(EF1) His → Tyr, β 80 (EF4) Asn → Ser.

Journal of the American Society for Mass Spectrometry·2013

Foetal haemoglobin, erythrocytes containing foetal haemoglobin, and hematological features in congolese patients with sickle cell anaemia.

Anemia·2012

[The problem of sickle cell disease in Africa].

Medecine tropicale : revue du Corps de sante colonial·2011

Short insertion in a hemoglobin chain: Hb Esch, an unstable alpha1 variant with duplication of the sequence Ala65-Leu-Thr-Asn68.

Blood cells, molecules & diseases·2003

[Good practices for the study of hemoglobin].

Annales de biologie clinique·2003

Endocrine Complications in Patients with Congenital Dyserythropoietic Anemia: A Single-Center Cohort Study.

Hemoglobin·2026

Metabolomic and Proteomic Profiling of Vaso-Occlusive Crises in Sickle Cell Disease: Current Evidence and Future Perspectives.

Hemoglobin·2026

Evaluation of a Customized RDB-FTH Panel for β-Globin Variants in a Malaysian Tertiary Center.

Hemoglobin·2026

CRISPR-Based Mediated Reactivation of Fetal Hemoglobin as a Therapeutic Strategy for Hemoglobinopathies: Evidence from Preclinical to Clinical Trials in Sickle Cell Disease and β-Thalassemia.

Hemoglobin·2026

Genotype-Specific Hematologic Signatures Across α-Globin Defect Categories in α-Thalassemia.

Hemoglobin·2026

Mapping the Management-to-Cure Transition in Thalassemia Research: Semantic Topic Modeling of 17,651 Publications Across Three Decades.

Hemoglobin·2026

Frail, Fluid, and Falsely Accused: Myxedema Ascites in an Older Adult.

Cureus·2026

Association of Vitamin B12 and Folate Deficiency with Vasovagal Syncope: A Case-Control Study.

Research in heart yield and translational medicine·2026

Equation Disagreement as a Zero-Cost Uncertainty Signal for LDL-C Classification: An Interpretable Regime-Aware Calibration Model Rescues Misclassification at Treatment Thresholds.

The journal of applied laboratory medicine·2026

Zolbetuximab-associated adverse event reporting signals in gastric cancer: a FAERS disproportionality analysis.

Frontiers in pharmacology·2026

Discordance Between BMI-Defined Overweight/Obesity and Waist-to-Height Ratio-Defined Central Obesity Among Adults with Type 2 Diabetes in Malawi: A Multicenter Cross-Sectional Study.

Diseases (Basel, Switzerland)·2026

A lightweight dual-representation cross-attention framework for urinary FTIR classification of lupus nephritis and subtype discrimination.

Spectrochimica acta. Part A, Molecular and biomolecular spectroscopy·2026

Related Experiment Videos

A silent hemoglobin variant: hemoglobin necker enfants-malades alpha 20 (B1) His leads to Tyr

Related Concept Videos

Improvements in phenotype studies of hemoglobin disorders brought by advances in reversed-phase chromatography of globin chains.

Use of combined mass spectrometry methods for the characterization of a new variant of human hemoglobin: The double mutant hemoglobin villeparisis β77(EF1) His → Tyr, β 80 (EF4) Asn → Ser.

Foetal haemoglobin, erythrocytes containing foetal haemoglobin, and hematological features in congolese patients with sickle cell anaemia.

[The problem of sickle cell disease in Africa].

Short insertion in a hemoglobin chain: Hb Esch, an unstable alpha1 variant with duplication of the sequence Ala65-Leu-Thr-Asn68.

[Good practices for the study of hemoglobin].

Endocrine Complications in Patients with Congenital Dyserythropoietic Anemia: A Single-Center Cohort Study.

Metabolomic and Proteomic Profiling of Vaso-Occlusive Crises in Sickle Cell Disease: Current Evidence and Future Perspectives.

Evaluation of a Customized RDB-FTH Panel for β-Globin Variants in a Malaysian Tertiary Center.

CRISPR-Based Mediated Reactivation of Fetal Hemoglobin as a Therapeutic Strategy for Hemoglobinopathies: Evidence from Preclinical to Clinical Trials in Sickle Cell Disease and β-Thalassemia.

Genotype-Specific Hematologic Signatures Across α-Globin Defect Categories in α-Thalassemia.

Mapping the Management-to-Cure Transition in Thalassemia Research: Semantic Topic Modeling of 17,651 Publications Across Three Decades.

Frail, Fluid, and Falsely Accused: Myxedema Ascites in an Older Adult.

Association of Vitamin B12 and Folate Deficiency with Vasovagal Syncope: A Case-Control Study.

Equation Disagreement as a Zero-Cost Uncertainty Signal for LDL-C Classification: An Interpretable Regime-Aware Calibration Model Rescues Misclassification at Treatment Thresholds.

Zolbetuximab-associated adverse event reporting signals in gastric cancer: a FAERS disproportionality analysis.

Discordance Between BMI-Defined Overweight/Obesity and Waist-to-Height Ratio-Defined Central Obesity Among Adults with Type 2 Diabetes in Malawi: A Multicenter Cross-Sectional Study.

A lightweight dual-representation cross-attention framework for urinary FTIR classification of lupus nephritis and subtype discrimination.

Related Experiment Videos

A silent hemoglobin variant: hemoglobin necker enfants-malades alpha 20 (B1) His leads to Tyr

Abstract:

Related Concept Videos

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