Concomitant Hereditary Spherocytosis and Pyruvate Kinase Deficiency in a Spanish Family with Chronic Hemolytic Anemia : Contribution of Laser Ektacytometry to Clinical Diagnosis
Vives Corrons, Juan Luís (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras)
Krishnevskaya, Elena (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras)
Montllor, Laura (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras)
Leguizamon, Valentina (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras)
Garcia Bernal, Marta (Hospital Universitari MútuaTerrassa (Terrassa, Catalunya))
Universitat Autònoma de Barcelona

Data:	2022
Resum:	Background: Hereditary spherocytosis (HS) and pyruvate kinase deficiency (PKD) are the most common causes of hereditary chronic hemolytic anemia. Here, we describe clinical and genetic characteristics of a Spanish family with concomitant β-spectrin (SPTB) c. 647G>A variant and pyruvate kinase (PKLR) c. 1706G>A variant. Methods: A family of 11 members was studied. Hematological investigation, hemolysis tests, and specific red cell studies were performed in all family members, according to conventional procedures. An ektacytometric study was performed using the osmoscan module of the Lorca ektacytometer (MaxSis. RR Mechatronics). The presence of the SPTB and PKLR variants was confirmed by t-NGS. Results: The t-NGS genetic characterization of the 11 family members showed the presence of a heterozygous mutation for the β-spectrin (SPTB; c. 647G>A) in seven members with HS, three of them co-inherited the PKLR variant c. 1706G>A. In the remaining four members, no gene mutation was found. Ektacytometry allowed a clear diagnostic orientation of HS, independently from the PKLR variant. Conclusions: This family study allows concluding that the SPTB mutation, (c. 647G>A) previously described as likely pathogenic (LP), should be classified as pathogenic (P), according to the recommendations for pathogenicity of the American College of Medical Genetics and the Association for Molecular Pathology. In addition, after 6 years of clinical follow-up of the patients with HS, it can be inferred that the chronic hemolytic anemia may be attributable to the SPTB mutation only, without influence of the concomitant PKLR. Moreover, only the family members with the SPTB mutation exhibited an ektacytometric profile characteristic of HS.
Ajuts:	European Commission 602121
Drets:	Aquest document està subjecte a una llicència d'ús Creative Commons. Es permet la reproducció total o parcial, la distribució, la comunicació pública de l'obra i la creació d'obres derivades, fins i tot amb finalitats comercials, sempre i quan es reconegui l'autoria de l'obra original.
Llengua:	Anglès
Document:	Article ; recerca ; Versió publicada
Publicat a:	Cells, Vol. 11 Núm. 7 (4-1 2022) , art. 1133, ISSN 2073-4409

DOI: 10.3390/cells11071133
PMID: 35406697

8 p, 936.1 KB

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