Fernando A. Gonzalez

Madrid, MD, Spain

Last Updated: 09/26/2026

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Found 30 publications

Digital PCR-based non-invasive prenatal diagnosis should be considered in the evolving diagnostic pathway for sickle cell disease.

Digital PCR-based non-invasive prenatal diagnosis should be considered in the evolving diagnostic pathway for sickle cell disease.

Journal: HemaSphere

Published: June 17, 2026

Beta-Thalassemia in Spain: Results From the National Thalassemia Registry and Molecular Analysis of Patients With Transfusion-Dependent Thalassemia.

Beta-Thalassemia in Spain: Results From the National Thalassemia Registry and Molecular Analysis of Patients With Transfusion-Dependent Thalassemia.

Journal: Journal of clinical laboratory analysis

Published: January 19, 2026

Molecular Characterization of Three Novel Large Deletions Causing α0-Thalassemia.

Molecular Characterization of Three Novel Large Deletions Causing α0-Thalassemia.

Journal: International journal of molecular sciences

Published: August 01, 2025

Importance of the 3'UTR region in globin synthesis: identification of two novel HBA1 mutations causing α-Thalassemia.

Importance of the 3'UTR region in globin synthesis: identification of two novel HBA1 mutations causing α-Thalassemia.

Journal: Annals of hematology

Published: July 04, 2025

Structural and clinical characterization of Hb Móstoles (HBA2:c.176A>G; p.His59Arg): a new unstable alpha-globin variant with thalassemic features.

Structural and clinical characterization of Hb Móstoles (HBA2:c.176A>G; p.His59Arg): a new unstable alpha-globin variant with thalassemic features.

Journal: American journal of blood research

Published: March 11, 2025

Phenotype of sickle cell disease. Correlation of haplotypes and polymorphisms in cluster β, BCL11A, and HBS1L-MYB. Pilot study.

Phenotype of sickle cell disease. Correlation of haplotypes and polymorphisms in cluster β, BCL11A, and HBS1L-MYB. Pilot study.

Journal: Frontiers in medicine

Published: November 30, 2023

Hb Nivaria: A New Hemoglobin Variant with a Shortened α-Globin Chain [α139(HC1)Lys→Stop; HBA1: c.418A>T].

Hb Nivaria: A New Hemoglobin Variant with a Shortened α-Globin Chain [α139(HC1)Lys→Stop; HBA1: c.418A>T].

Journal: Hemoglobin

Published: February 27, 2023

Nondeletional α-Thalassemia: Two New Mutations on the α2 Gene.

Nondeletional α-Thalassemia: Two New Mutations on the α2 Gene.

Journal: Hemoglobin

Published: February 01, 2020

C>A substitution in NT 46 of the 3' UTR region (the α complex protected region) of the alpha-1 globin gene: a non-deletional mutation or polymorphism?

C>A substitution in NT 46 of the 3' UTR region (the α complex protected region) of the alpha-1 globin gene: a non-deletional mutation or polymorphism?

Journal: Journal of clinical pathology

Published: June 04, 2019

Capillary electrophoresis and mutational images of hemoglobin sendagi [Β42 (CD1) PHE → VAL; HBB: C.127T→G].

Capillary electrophoresis and mutational images of hemoglobin sendagi [Β42 (CD1) PHE → VAL; HBB: C.127T→G].

Journal: Clinical biochemistry

Published: January 30, 2019

Novel nonsense mutation in the α1-globin gene [HBA1:C.49A>T] is responsible for non-deletion α-thalassemia.

Novel nonsense mutation in the α1-globin gene [HBA1:C.49A>T] is responsible for non-deletion α-thalassemia.

Journal: Clinical biochemistry

Published: September 04, 2018

Characterization of deletional and non-deletional alpha globin variants in a large cohort from Spain between 2009 and 2014.

Characterization of deletional and non-deletional alpha globin variants in a large cohort from Spain between 2009 and 2014.

Journal: Annals of hematology

Published: July 26, 2018

Showing 1-12 of 30

Last Updated: 09/26/2026