First detection of Hb Taybe [α38(C3) or α39(C4) Thr→0 (α1)] in an Italian child.

Abstract

Hb Taybe [α38(C3) or α39(C4) Thr→0 (α1)] is an unstable hemoglobin (Hb) variant caused by a deletion of a threonine residue at codon 39 of the α1-globin chain. Usually asymptomatic or with minimal hematological abnormalities in the heterozygous state, Hb Taybe becomes clinically evident in compound heterozygosity with α-thalassemia (α-thal) or in homozygous patients. To date, Hb Taybe has been described in Israeli-Arab and Greek individuals. We report, for the first time, a patient with chronic hemolytic anemia due to the presence of Hb Taybe in trans to the α2 initiation codon mutation ATG>ACG in an Italian child. Hb Taybe was not evident at Hb analysis with cellulose acetate electrophoresis and high performance liquid chromatography (HPLC). Globin biosynthetic studies revealed an α/β-globin ratio in the range of β-thal trait. Consequently, an investigation of the α- and β-globin genes was requested in order to avoid missing any rare globin chain variant and to offer accurate genetic counseling.

• Authors: Maria Elisabetta Paglietti, Maria Carla Sollaino, Daniela Loi, Susanna Barella, Maria Franca Desogus, Renzo Galanello
• Journal: Hemoglobin (Hemoglobin) Vol. 36 Issue 3 Pg. 299-304 ( 2012) ISSN: 1532-432X [Electronic] England
• PMID: 22428534 (Publication Type: Case Reports, Journal Article)

Chemical References

• Codon, Initiator
• Hemoglobins, Abnormal
• alpha-Globins
• hemoglobin Taybe
• Threonine

Topics

• Anemia, Hemolytic (genetics, pathology)
• Base Sequence
• Child, Preschool
• Chronic Disease
• Codon, Initiator (genetics)
• DNA Mutational Analysis
• Hemoglobins, Abnormal (genetics)
• Humans
• Italy
• Male
• Mutation
• Sequence Deletion
• Threonine (genetics)
• alpha-Globins (genetics)