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.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.3109/03630269.2012.659780 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Severe Transfusion-Dependent Thalassemia in Compound Heterozygote Palestinian Siblings with Two α-Globin Gene Defects, Hb Taybe D : C.119_121delCCA Mutation and : C.*94A > G Mutation.
Hemoglobin
March 2024
Department of Biochemistry and Molecular Genetics, Faculty of Medicine, American University of Beirut Medical Center, Beirut, Lebanon.
Article Synopsis
- Alpha and Beta Thalassemia are types of blood disorders that make people very sick and are common in places like the Middle East and North Africa.
- Two siblings from Palestine had a serious blood condition that required many blood transfusions, and tests showed they had a specific genetic mutation.
- The report suggests that it's important to work together with doctors and genetic experts to find rare mutations and improve testing for these conditions.
Hb TAYBE: clinical and morphological findings IN 43 patients.
Eur J Haematol
August 2016
The Ruth and Baruch Rappaport School of Medicine, Technion, Israel Institute of Technology, Haifa, Israel.
Unlabelled: Hereditary sequence variants in globin genes are usually silent and are rarer in α-globin chains than β-globin chains. Some may lead to an unstable protein with a hemolytic or thalassemic phenotype. Hb Taybe is an unstable α-chain hemoglobin variant caused by the deletion of a threonine residue at codon 38 or 39 of the α1 globin gene.
View Article and Find Full Text PDFObjective And Importance: To describe two novel hemoglobin mutations that resulted in an unstable hemoglobin with a severe hemolytic phenotype.
Clinical Presentation: A patient with an unstable hemoglobin and chronic hemolysis underwent splenectomy at age 15, subsequently developing chronic thrombo-embolic pulmonary hypertension at age 27 that was ultimately fatal.
Intervention: DNA sequencing of the alpha globin gene revealed heterozygous inheritance of Hb Taybe, arising from a novel mutation in the HBA2 gene and Hb Bridlington, a novel HBA1 mutation.
Thrombosis in Hb Taybe [codons 38/39 (-ACC) (α1)].
Hemoglobin
April 2013
Department of Haematology, Odense University Hospital, Odense, Denmark.
Hb Taybe is a highly unstable hemoglobin (Hb) variant caused by a 3 bp deletion at codons 38/39 (-ACC) on the α1-globin gene. We report for the first time, a patient with a compound heterozygosity for Hb Taybe and a 5 bp deletion at the splice donor site of IVS-I on the α2-globin gene and ischemic stroke and priapism. The patient, a male of Palestinian origin, suffered since childhood from moderate hemolytic anemia.
View Article and Find Full Text PDFFirst detection of Hb Taybe [α38(C3) or α39(C4) Thr→0 (α1)] in an Italian child.
Hemoglobin
October 2012
Clinica Pediatrica 2°, Dipartimento di Scienze Biomediche e Biotecnologie, Università di Cagliari, Ospedale Regionale Microcitemie, ASL 8 Cagliari, Italy.
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.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!