Prevalence of 3.7 and 4.2 deletions in Sudanese patients with red cells hypochromia and microcytosis
Abstract Objective Alpha-thalassemia is a genetic disorder characterized by deletions of one or more α globin genes that result in deficient of α globin chains reducing haemoglobin concentration. The study aimed to screen 97 patients with microcytosis and hypochromasia for the 3.7 and 4.2 alpha thal...
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BMC
2020-02-01
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| Series: | BMC Research Notes |
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| Online Access: | https://doi.org/10.1186/s13104-020-4933-5 |
| _version_ | 1818664904864825344 |
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| author | Hussam Ali Osman Muzamil Mahdi Abdel Hamid Rahimah Binti Ahmad Mohamed Saleem Sana Altahir Abdallah |
| author_facet | Hussam Ali Osman Muzamil Mahdi Abdel Hamid Rahimah Binti Ahmad Mohamed Saleem Sana Altahir Abdallah |
| author_sort | Hussam Ali Osman |
| collection | DOAJ |
| description | Abstract Objective Alpha-thalassemia is a genetic disorder characterized by deletions of one or more α globin genes that result in deficient of α globin chains reducing haemoglobin concentration. The study aimed to screen 97 patients with microcytosis and hypochromasia for the 3.7 and 4.2 alpha thalassemia deletion mutations. Results Out of 97 patients screened, only 7 were carriers for the 3.7 deletion and all patients were negative for the 4.2 deletion. The 3.7 deletion was found in Foor, Hawsa and Rezagat Sudanese tribes. In the carriers of the 3.7 deletion, Red Blood Cells and Haematocrit were significantly increased. The Red Blood Cells were 7.23 ± 0.78 × 1012/L in adult males and 7.21 ± 0.67 × 1012/L in adult females while in children were 5.07 ± 0.87 × 1012/L. The mean cell volume and mean cell haemoglobin were significantly decreased, but the mean cell haemoglobin concentration slightly decreased. Haemoglobin levels didn’t revealed statistically significant decrease in adult males (11.7 ± 0.57 g/dL) and adult females (11.25 ± 0.64 g/dL), while in children were (11.6 ± 2.95 g/dL). Haemoglobin electrophoresis revealed two patients of the 3.7 and 4.2 negative were carriers for β-thalassemia. The study concluded that α3.7 deletion has frequency of 0.07 in Sudanese with hypochromasia and microcytosis. |
| first_indexed | 2024-12-17T05:40:09Z |
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| id | doaj.art-71e2deb665564bbdb754b1c40042077f |
| institution | Directory Open Access Journal |
| issn | 1756-0500 |
| language | English |
| last_indexed | 2024-12-17T05:40:09Z |
| publishDate | 2020-02-01 |
| publisher | BMC |
| record_format | Article |
| series | BMC Research Notes |
| spelling | doaj.art-71e2deb665564bbdb754b1c40042077f2022-12-21T22:01:28ZengBMCBMC Research Notes1756-05002020-02-011311510.1186/s13104-020-4933-5Prevalence of 3.7 and 4.2 deletions in Sudanese patients with red cells hypochromia and microcytosisHussam Ali Osman0Muzamil Mahdi Abdel Hamid1Rahimah Binti Ahmad2Mohamed Saleem3Sana Altahir Abdallah4Department of Biotechnology, School of Pharmacy, Ahafad University for WomenInstitute of Endemic Diseases, Medical Campus, University of KhartoumHematology Unit, Cancer Research Centre Institute for Medical Research Jalan PahangAdvanced Genomics SDN BHD (GenomixLAB)Department of Pathology, Faculty of Medicine, Alneelain UniversityAbstract Objective Alpha-thalassemia is a genetic disorder characterized by deletions of one or more α globin genes that result in deficient of α globin chains reducing haemoglobin concentration. The study aimed to screen 97 patients with microcytosis and hypochromasia for the 3.7 and 4.2 alpha thalassemia deletion mutations. Results Out of 97 patients screened, only 7 were carriers for the 3.7 deletion and all patients were negative for the 4.2 deletion. The 3.7 deletion was found in Foor, Hawsa and Rezagat Sudanese tribes. In the carriers of the 3.7 deletion, Red Blood Cells and Haematocrit were significantly increased. The Red Blood Cells were 7.23 ± 0.78 × 1012/L in adult males and 7.21 ± 0.67 × 1012/L in adult females while in children were 5.07 ± 0.87 × 1012/L. The mean cell volume and mean cell haemoglobin were significantly decreased, but the mean cell haemoglobin concentration slightly decreased. Haemoglobin levels didn’t revealed statistically significant decrease in adult males (11.7 ± 0.57 g/dL) and adult females (11.25 ± 0.64 g/dL), while in children were (11.6 ± 2.95 g/dL). Haemoglobin electrophoresis revealed two patients of the 3.7 and 4.2 negative were carriers for β-thalassemia. The study concluded that α3.7 deletion has frequency of 0.07 in Sudanese with hypochromasia and microcytosis.https://doi.org/10.1186/s13104-020-4933-5Alpha thalassemiaMultiplex Gap-PCRHeterozygous/carriersDeletion mutations |
| spellingShingle | Hussam Ali Osman Muzamil Mahdi Abdel Hamid Rahimah Binti Ahmad Mohamed Saleem Sana Altahir Abdallah Prevalence of 3.7 and 4.2 deletions in Sudanese patients with red cells hypochromia and microcytosis BMC Research Notes Alpha thalassemia Multiplex Gap-PCR Heterozygous/carriers Deletion mutations |
| title | Prevalence of 3.7 and 4.2 deletions in Sudanese patients with red cells hypochromia and microcytosis |
| title_full | Prevalence of 3.7 and 4.2 deletions in Sudanese patients with red cells hypochromia and microcytosis |
| title_fullStr | Prevalence of 3.7 and 4.2 deletions in Sudanese patients with red cells hypochromia and microcytosis |
| title_full_unstemmed | Prevalence of 3.7 and 4.2 deletions in Sudanese patients with red cells hypochromia and microcytosis |
| title_short | Prevalence of 3.7 and 4.2 deletions in Sudanese patients with red cells hypochromia and microcytosis |
| title_sort | prevalence of 3 7 and 4 2 deletions in sudanese patients with red cells hypochromia and microcytosis |
| topic | Alpha thalassemia Multiplex Gap-PCR Heterozygous/carriers Deletion mutations |
| url | https://doi.org/10.1186/s13104-020-4933-5 |
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