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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
biochemistry, genetics and molecular biology
Genotypic correlation between six common β-thalassemia mutations and the XmnI polymorphism in the moroccan population
Hemoglobin, Volume 31, No. 2, Year 2007
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Description
β-Thalassemia (thal) is the most common recessive inherited disorder in Mediterranean populations. It is estimated that the frequency of this disease in the Moroccan population is between 1.5 and 3.0%. Severe forms of homozygous thalassemia cases require expensive and technically demanding curative (bone marrow transplantation) or palliative (chronic transfusion/chelation) therapies. The -158 (C→T) polymorphism of the Gγ-globin gene (XmnI polymorphism) is known to ameliorate the severity of the disease because of it strong association with an increased production of fetal hemoglobin (Hb F). Among the many known mutations in Morocco, six are common [codon 39 (C→T), frameshift codon (FSC) 8 (-AA), IVS-II-745 (C→G), FSC 6 (-A), -29 (A→G) and IVS-I-1 (G→A)]. In this study, we have investigated, in 82 Moroccan β-thalassemic chromosomes, the correlation between the six common mutations and the XmnI polymorphism using the Fisher exact test. The XmnI polymorphism was divided into two categories, (XmnI [+] and XmnI ) and the six common Moroccan mutations into two groups (group I with FSC 8 and group II without FSC 8). Correlation was carried out between the XmnI [+] category and the six common mutations individually that showed that 68% of chromosomes in the XmnI [+] category had the FSC 8 (-AA) mutation. The results reported here show that there is a positive correlation between the XmnI polymorphism and FSC 8 mutation in linkage with haplotype IV [- + - + + - +] (p <10-5). In conclusion, molecular determination of genetic markers in early childhood will help to identify candidates for pharmacological Hb F switching by hydroxyurea (HU). In the Moroccan population, a good response to HU treatment should be suspected in cases with the -158 (C→T) polymorphism in linkage with haplotype IV and internal β-globin gene framework 3. Copyright © Informa Healthcare.
Authors & Co-Authors
Agouti, Imane
Morocco, Tangier
Faculté Des Sciences et Techniques de Tanger
Badens, Catherine
France, Marseille
Hopital la Timone
Abouyoub, Ahmed
Morocco, Agdal Rabat
Ibn Sina Hospital, Agdal Rabat
Khattab, Mohammed El
Morocco, Agdal Rabat
Hôpital D'enfants
Sayah, Fouad
Morocco, Tangier
Faculté Des Sciences et Techniques de Tanger
Barakat, Amina
Morocco, Tangier
Faculté Des Sciences et Techniques de Tanger
Bennani Mechita, Mohcine
Morocco, Tangier
Faculté Des Sciences et Techniques de Tanger
Statistics
Citations: 7
Authors: 7
Affiliations: 4
Identifiers
Doi:
10.1080/03630260701285050
ISSN:
03630269
e-ISSN:
1532432X
Research Areas
Cancer
Genetics And Genomics
Health System And Policy
Maternal And Child Health
Study Design
Cross Sectional Study
Study Locations
Morocco