title: [Sickle cell syndrome. Association between hemoglobin S and β thalassemia].
abstract: Sickle cell syndrome HbS/β thalassemia is an inheritable mendelian type disease where two affected alleles are simultaneously present, one from HbS (βS) and the other from β thalassemia. That situation is mainly linked to individuals who share African and Mediterranean ancestors. The mutation responsible for HbS is a point mutation, whereas for β thalassemia, there are more than 200 mutations that cause different degrees of deficiency synthesis of β globin chain, which justifies the clinical and genetic heterogeneity of this syndrome. It is presented a clinical case of a young adult man with limited resources that consulted by longstanding bone pain. The patient presented anemia with a marked microcytosis. Hemoglobin electrophoresis was performed, an abnormal peak in position of HbS and high HbA2 fraction were detected. These last results indicated two possible molecular alterations simultaneously, for this reason the molecular study was performed looking for the most common β thalassemia mutations in our population and, the point mutation responsible for S hemoglobinopathy. Clinical data and biochemical laboratory allowed the diagnosis of sickle cell syndrome. The molecular study confirmed the syndrome carrying mutations IVS-I nt 110 G > A, responsible for β thalassemia and, codon 6 A > T (GAG → GTG: Glu → Val) responsible for S hemoglobinophaty. Since it is a disease of high health impact, it is important to provide genetic counseling to the whole family.
authors.affiliation: Laboratorio de Especialidades Bioquímicas, Universidad Nacional del Sur, Bahía Blanca, Buenos Aires, Argentina.
authors.forename: Nehuen P
authors.initials: NP
authors.lastname: Gasparini
authors.affiliation: Laboratorio de Especialidades Bioquímicas, Universidad Nacional del Sur, Bahía Blanca, Buenos Aires, Argentina.
authors.forename: Evangelina E
authors.initials: EE
authors.lastname: Agriello
authors.affiliation: Laboratorio de Especialidades Bioquímicas, Universidad Nacional del Sur, Bahía Blanca, Buenos Aires, Argentina.
authors.forename: M J Lorena
authors.initials: MJ
authors.lastname: Zanella
authors.affiliation: Laboratorio de Especialidades Bioquímicas, Universidad Nacional del Sur, Bahía Blanca, Buenos Aires, Argentina.
authors.forename: María P
authors.initials: MP
authors.lastname: Iommi
authors.affiliation: Servicio de Hematología, Hospital Municipal Dr. Emilio Ferreyra, Necochea, Buenos Aires, Argentina.
authors.forename: Juan
authors.initials: J
authors.lastname: Maradei
authors.affiliation: Cátedras de Hematología Clínica y Bioquímica, Clínica II, Departamento de Biología, Bioquímica y Farmacia, Universidad Nacional del Sur, Bahía Blanca, Buenos Aires, Argentina. E-mail: msandova@criba.edu.ar.
authors.forename: Marisa J
authors.initials: MJ
authors.lastname: Sandoval
mesh_terms: D000328:Adult; D000755:Anemia, Sickle Cell / Q000175:diagnosis / Q000235:genetics*; D015415:Biomarkers; D019075:Electrophoresis, Capillary; D006451:Hemoglobin, Sickle / Q000235:genetics*; D006801:Humans; D008297:Male; D008967:Molecular Biology; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D013577:Syndrome; D017086:beta-Thalassemia / Q000175:diagnosis / Q000235:genetics*
chemical_list: D015415:Biomarkers; D006451:Hemoglobin, Sickle
keywords: hemoglobinopathies; molecular biology; sickle cell syndrome; β -thalassemia