MM
MASSIMO MAFFEI
Also known as: Dr. Massimo Maffei
Istituto Giannina Gaslini, University of Genoa
Research areas: Medicine · Genetics · Hemoglobinopathies and Related Disorders · Hemoglobin structure and function · Blood groups and transfusion
0000-0002-2453-9065
Employment
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Istituto Giannina Gaslini Biologist2019 - Present
Education
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University of Genoa Biology degree
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University of Genoa Microbiology and virology specialization
Projects & Funding
Projects & funding information is unavailable.
Publications (8)
- A Novel α-Globin Gene Variant: Hb Romagna [α61(E10)Lys>Gln; HBA1:c.184A>C] Co-Inherited with Hb A2-Lampang [δ47(CD6)Asp>Asn; HBD:c.142G>A] in an Italian Diabetic Woman Save
- Familial erythrocytosis and phenotypic heterogeneity associated with different defects in alpha globin genes: a significant new case of Hb Wroclaw (α88(F9) Ala>Glu; HBA1: c.266C>A) Save
- Chromosomal Deletion Involving ANKRD26 Leads to Expression of a Fusion Protein Responsible for ANKRD26-Related Thrombocytopenia Save
- Ability of the Capillary Electrophoresis-based HbA1c Assay to Detect Rare Hemoglobin Variants Save
- Relevance of Next-Generation Sequencing in the Diagnosis of Thalassemia and Hemoglobinopathies: The Experience of Four Italian Diagnostic Hubs Save
- Hb A 2 -Pontedera [δ93(F9) Cys > Trp; HBD : C.282T > G]: A New δ-Globin Chain Variant Detected by Screening Tests for Hemoglobinopathies Save
- Hb Alessandria [β37(C3)Trp→Leu; HBB: c.113G>T]: a Novel Variant on the β-Globin Chain with Slightly Increased Affinity for Oxygen Detected by Capillary Electrophoresis Save
- Hemoglobin A2 and Heterogeneous Diagnostic Relevance Observed in Eight New Variants of the Delta Globin Gene Save