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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 ? globin genes that result in deficient of ? 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 ?-thalassemia. The study concluded that ?3.7 deletion has frequency of 0.07 in Sudanese with hypochromasia and microcytosis.

SUBMITTER: Osman HA

PROVIDER: S-EPMC7011266 | biostudies-literature | 2020 Feb

REPOSITORIES: biostudies-literature

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Prevalence of 3.7 and 4.2 deletions in Sudanese patients with red cells hypochromia and microcytosis.

Osman Hussam Ali HA Hamid Muzamil Mahdi Abdel MMA Ahmad Rahimah Binti RB Saleem Mohamed M Abdallah Sana Altahir SA

BMC research notes 20200210 1

<h4>Objective</h4>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.<h4>Results</h4>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 ...[more]

PMID: 32041645

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Project description:Background and objectiveAggressive periodontitis (AgP) is prevalent and shows a rapid course in African individuals. Although a strong focus has been placed on Aggregatibacter actinomycetemcomitans, new methods support the existence of a complex subgingival microflora in AgP. The purpose of the present study was to map the subgingival microbiota as well as explore the presence of A. actinomycetemcomitans and the JP2 clone in a group of Sudanese individuals with AgP, using different analytical methods.Material and methodsA study population consisting of 19 patients with AgP was recruited from patients seeking treatment at University of Science and Technology (UST) in Khartoum. Fifteen healthy subjects were included as controls. Plaque samples were analyzed for 272 taxa using human oral microbe identification microarrays and for 26 periodontal taxa using DNA-DNA hybridization checkerboard. Conventional polymerase chain reaction (PCR) was applied for the detection of A. actinomycetemcomitans and the JP2 clone in plaque. Saliva from patients with AgP was analyzed using quantitative PCR (qPCR) for the detection of A. actinomycetemcomitans.ResultsEubacterium yurii was detected more frequently in patients with AgP than in controls, and E. nodatum was found in patients with AgP only. A. actinomycetemcomitans was found in plaque samples of two (12%) patients by human oral microbe identification microarrays and in five (29%) patients with AgP by conventional PCR, as well as in six (32%) of the AgP saliva samples by qPCR. The JP2 clone was identified in only one patient.ConclusionThe classical periodontal pathogens were not present in high amounts in AgP in the population studied here. Species of Eubacterium, which are not typically associated with AgP, were often detected in individuals with disease. Using laboratory methods with different sensitivities and detection levels allowed identification of variances in microbial communities. The findings reported in this study provide a basis for the further understanding of AgP.

Dataset Information

Prevalence of 3.7 and 4.2 deletions in Sudanese patients with red cells hypochromia and microcytosis.

Publications

Prevalence of 3.7 and 4.2 deletions in Sudanese patients with red cells hypochromia and microcytosis.

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