Combination of two rare mutations causes β-thalassaemia in a Bangladeshi patient
Screening of mutations that cause β-thalassaemia in the Bangladeshi population led to the identification of a patient with a combination of two rare mutations, Hb Monroe and HBB: -92C>G.The β-thalassaemia major male individual was transfusion-dependent and had an atypical β-globin gene cluster ha...
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| Format: | Article |
| Language: | English |
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Sociedade Brasileira de Genética
2011-01-01
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| Series: | Genetics and Molecular Biology |
| Subjects: | |
| Online Access: | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572011000300006&lng=en&tlng=en |
| _version_ | 1819259047181811712 |
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| author | Mahdi Muhammad Moosa Mustak Ibn Ayub AMA Emran Bashar Golam Sarwardi Waqar Khan Haseena Khan Sabina Yeasmin |
| author_facet | Mahdi Muhammad Moosa Mustak Ibn Ayub AMA Emran Bashar Golam Sarwardi Waqar Khan Haseena Khan Sabina Yeasmin |
| author_sort | Mahdi Muhammad Moosa |
| collection | DOAJ |
| description | Screening of mutations that cause β-thalassaemia in the Bangladeshi population led to the identification of a patient with a combination of two rare mutations, Hb Monroe and HBB: -92C>G.The β-thalassaemia major male individual was transfusion-dependent and had an atypical β-globin gene cluster haplotype. Of the two mutations, Hb Monroe has been characterized in detail. Clinical effects of the other mutation, HBB: -92C>G,are unknown so far. Bioinformatics analyses were carried out to predict the possible effect of this mutation. These analyses revealed the presence of a putative binding site for Egr1, a transcription factor, within the HBB:-92 region. Our literature survey suggests a close relationship between different phenotypic manifestations of β-thalassaemia and Egr1 expression. |
| first_indexed | 2024-12-23T19:03:48Z |
| format | Article |
| id | doaj.art-67af5e012d354f6c918c1555acebe6fd |
| institution | Directory Open Access Journal |
| issn | 1678-4685 |
| language | English |
| last_indexed | 2024-12-23T19:03:48Z |
| publishDate | 2011-01-01 |
| publisher | Sociedade Brasileira de Genética |
| record_format | Article |
| series | Genetics and Molecular Biology |
| spelling | doaj.art-67af5e012d354f6c918c1555acebe6fd2022-12-21T17:34:39ZengSociedade Brasileira de GenéticaGenetics and Molecular Biology1678-46852011-01-01343406409S1415-47572011000300006Combination of two rare mutations causes β-thalassaemia in a Bangladeshi patientMahdi Muhammad Moosa0Mustak Ibn Ayub1AMA Emran Bashar2Golam Sarwardi3Waqar Khan4Haseena Khan5Sabina Yeasmin6University of DhakaUniversity of DhakaUniversity of DhakaDhaka Shishu HospitalDhaka Shishu HospitalUniversity of DhakaUniversity of DhakaScreening of mutations that cause β-thalassaemia in the Bangladeshi population led to the identification of a patient with a combination of two rare mutations, Hb Monroe and HBB: -92C>G.The β-thalassaemia major male individual was transfusion-dependent and had an atypical β-globin gene cluster haplotype. Of the two mutations, Hb Monroe has been characterized in detail. Clinical effects of the other mutation, HBB: -92C>G,are unknown so far. Bioinformatics analyses were carried out to predict the possible effect of this mutation. These analyses revealed the presence of a putative binding site for Egr1, a transcription factor, within the HBB:-92 region. Our literature survey suggests a close relationship between different phenotypic manifestations of β-thalassaemia and Egr1 expression.http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572011000300006&lng=en&tlng=enHb MonroeHBB: -92C>Gtranscription factorEgr1 |
| spellingShingle | Mahdi Muhammad Moosa Mustak Ibn Ayub AMA Emran Bashar Golam Sarwardi Waqar Khan Haseena Khan Sabina Yeasmin Combination of two rare mutations causes β-thalassaemia in a Bangladeshi patient Genetics and Molecular Biology Hb Monroe HBB: -92C>G transcription factor Egr1 |
| title | Combination of two rare mutations causes β-thalassaemia in a Bangladeshi patient |
| title_full | Combination of two rare mutations causes β-thalassaemia in a Bangladeshi patient |
| title_fullStr | Combination of two rare mutations causes β-thalassaemia in a Bangladeshi patient |
| title_full_unstemmed | Combination of two rare mutations causes β-thalassaemia in a Bangladeshi patient |
| title_short | Combination of two rare mutations causes β-thalassaemia in a Bangladeshi patient |
| title_sort | combination of two rare mutations causes β thalassaemia in a bangladeshi patient |
| topic | Hb Monroe HBB: -92C>G transcription factor Egr1 |
| url | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572011000300006&lng=en&tlng=en |
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