Rare hemoglobin variants in Tunisian population
| Autor: | Kais Douzi, Ikbel Mosbahi, Amine Zorai, Imen Moumni, D. Chaouachi, Salem Abbes, F. Guemira |
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| Přispěvatelé: | Laboratoire d'hématologie moléculaire et cellulaire (LR11IPT07), Institut Pasteur de Tunis, Réseau International des Instituts Pasteur (RIIP)-Réseau International des Instituts Pasteur (RIIP), Institut Salah Azaiz [Tunis] (ISA), This work has been supported by «la direction de la recherche scientifique, ministère de l'enseignement supérieur et de la recherche scientifique de Tunisie, laboratoire: LR05SP04». |
| Rok vydání: | 2014 |
| Předmět: |
Erythrocyte Indices
RNA Stability Clinical Biochemistry DNA Mutational Analysis MESH: Tunisia/epidemiology beta-Globins MESH: Hemoglobinopathies/genetics law.invention MESH: Genotype Hemoglobins 0302 clinical medicine law Coding region DNA sequencing MESH: DNA Mutational Analysis MESH: Hemoglobinopathies/epidemiology Polymerase chain reaction Genetics delta-Globins MESH: Genetic Variation MESH: Hemoglobins/genetics MESH: beta-Globins/genetics Hemoglobin variants MESH: RNA Stability [SDV.MHEP.HEM]Life Sciences [q-bio]/Human health and pathology/Hematology Hematology General Medicine MESH: Amino Acid Substitution 3. Good health MESH: Hemoglobinopathies/diagnosis Phenotype 030220 oncology & carcinogenesis Population Surveillance Tunisians MESH: delta-Globins/genetics Tunisia Genotype Biology MESH: Phenotype MESH: Population Surveillance 03 medical and health sciences alpha-Globins Humans Allele Gene Alleles MESH: Humans Isoelectric focusing MESH: Erythrocyte Indices MESH: Alleles Biochemistry (medical) Genetic Variation Molecular biology Hemoglobinopathies MESH: alpha-Globins/genetics Amino Acid Substitution Hemoglobin 030215 immunology |
| Zdroj: | International Journal of Laboratory Hematology International Journal of Laboratory Hematology, Wiley, 2015, 37 (2), pp.148-154. ⟨10.1111/ijlh.12259⟩ |
| ISSN: | 1751-553X 1751-5521 1365-2257 |
| Popis: | International audience; S U M M A RY During the last 30 years, many studies concerning hemoglobinopa-thies were realized among Tunisians. More than twenty different thalassemic alleles were detected on the b-globin gene, and less are affecting the a-globin genes. Unusual hemoglobin (Hb) variants other than Hb S, Hb C, and Hb O-arab, which are the most frequent variants in Tunisia, were also detected. Eight Tunisian subjects were studied at phenotypic and molecular levels. Hematological indices and hemoglobin (Hb) pattern were performed by alkaline electrophoresis and isoelectric focusing (IEF), and the Hb fractions were quantitated by cation exchange HPLC. On genomic level, coding regions were amplified by polymerase chain reaction (PCR) followed by a sequencing of the purified PCR products using the dye terminator method. Seven uncommon Hb variants were detected and described for the first time among Tuni-sians. HbA2-Tunis [d46(CD5), Gly ? Glu, GGG ? GAG] is the newly described d-chain variant in our laboratory, and some other variants (Hb Constant Spring, G San Jose, and Hb J-Bangkok) are very uncommon in the Mediterranean region. We present here an updated review of the Hb variants detected among Tunisians. Twenty-one rare Hb variants were detected affecting the a1-, a2-, d-, c-, and b-globin genes, leading in some cases to a severe phenotype especially when the stability is completely altered. The ethnical history of Tunisia could explain this important variability of the observed rare Hb variants. |
| Databáze: | OpenAIRE |
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