title: [Neonatal expression of beta-thalassemia trait associated with hereditary spherocytosis in two monozygotic twins].
abstract: The beta-thalassemia trait is a heterozygous beta-thalassemia characterized by a partial deficiency of the synthesis of beta-globin chains of hemoglobin. It is usually asymptomatic and the diagnosis is often made on the occasion of the completion of a systematic blood count or a family survey. Clinical expression during the neonatal period is impossible and its association with hereditary spherocytosis is common. We report two monozygotic twins who, on the 3rd day of life, presented intense jaundice, unconjugated bilirubin associated with anemia, without hepatosplenomegaly. Laboratory tests found nonimmune hemolytic anemia with microcytosis and hypochromia justifying iterative blood transfusions. The etiological investigation found heterozygous beta-thalassemia associated with hereditary spherocytosis. The family investigation and molecular analysis objectified the beta-thalassemic mutation IVS1nt110 (G→A) in the heterozygous state in the twins, the father, the mother, and in one of the two brothers. With any nonimmune hemolytic anemia in newborns, the etiological investigation should be systematic for early diagnosis and to plan appropriate treatment.
authors.affiliation: Service de pédiatrie et de néonatologie, hôpital universitaire Tahar Sfar, 5111 Mahdia, Tunisie. Electronic address: hechmi.benhamouda@rns.tn.
authors.forename: H
authors.initials: H
authors.lastname: Ben Hamouda
authors.affiliation: Service de pédiatrie et de néonatologie, hôpital universitaire Tahar Sfar, 5111 Mahdia, Tunisie.
authors.forename: B
authors.initials: B
authors.lastname: Mahjoub
authors.affiliation: Service de pédiatrie et de néonatologie, hôpital universitaire Tahar Sfar, 5111 Mahdia, Tunisie.
authors.forename: H
authors.initials: H
authors.lastname: Soua
authors.affiliation: Laboratoire de biochimie clinique, CHU Farhat Hached, 4000 Sousse, Tunisie.
authors.forename: S
authors.initials: S
authors.lastname: Laradi
authors.affiliation: Laboratoire de biochimie clinique, CHU Farhat Hached, 4000 Sousse, Tunisie.
authors.forename: A
authors.initials: A
authors.lastname: Miled
authors.affiliation: Service de pédiatrie et de néonatologie, hôpital universitaire Tahar Sfar, 5111 Mahdia, Tunisie.
authors.forename: M T
authors.initials: MT
authors.lastname: Sfar
mesh_terms: D002648:Child; D002675:Child, Preschool; D018389:Codon, Nonsense / Q000235:genetics; D004252:DNA Mutational Analysis; D004200:Diseases in Twins / Q000175:diagnosis* / Q000235:genetics*; D005260:Female; D005500:Follow-Up Studies; D015870:Gene Expression / Q000235:genetics; D006580:Genetic Carrier Screening; D005820:Genetic Testing; D005838:Genotype; D006452:Hemoglobinometry; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D013103:Spherocytosis, Hereditary / Q000175:diagnosis* / Q000235:genetics*; D014430:Twins, Monozygotic; D017086:beta-Thalassemia / Q000175:diagnosis / Q000235:genetics
chemical_list: D018389:Codon, Nonsense