Diagnóstico molecular da talassemia a+ (deleção -a3.7) em indivíduos com microcitose e/ou hipocromia atendidos no Hemocentro Dalton Barbosa Cunha em Natal, Rio Grande do Norte

Bezerra, Christiane Medeiros

doi:10.1590/s1516-84842010000100022

“…This was previously reported (15) , where alpha thalassemia trait patients were characterized by slight reduction in haemoglobin level. The MCV and MCH showed microcytosis and hypochromasia in adults, and this finding is consistent with many previous studies concerning the contribution of alpha thalassemia to microcytosis and hypochromia (21,23,24,25,26,27,28,29) , while others (15,22) reported slight microcytosis and hypochromasia or sometimes normal with alpha thalassemia trait. The microcytosis and hypochromasia that reported in the current study might be due to a coinheritance of the α 3.7 allele with other deletion type or point mutation, such as AC deletion in vicinity of the initiation codon of the -α 3.7 allele.…”

Section: Discussionsupporting

confidence: 92%

Prevalence of 3.7 and 4.2 Deletions in Sudanese Patients with Red Cells Hypochromia and Microcytosis

Osman

¹

,

Hamid

²

,

Ahmad³

et al. 2020

Preprint

0

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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±0.78×10 12 /L in adult males and 7.21±0.67×10 12 /L in adult females while in children were 5.07±0.87×10 12 /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 b-thalassemia. The study concluded that α 3.7 deletion has frequency of 0.07 in Sudanese with hypochromasia and microcytosis.

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“…This was previously reported [14], where alpha thalassemia trait patients were characterized by slight reduction in haemoglobin level. The MCV and MCH showed microcytosis and hypochromasia in adults, and this finding is consistent with many previous studies concerning the contribution of alpha thalassemia to microcytosis and hypochromia [20][21][22][23][24][25][26][27], while others [14,28] reported slight microcytosis and hypochromasia or sometimes normal with alpha thalassemia trait. Unlike many other similar studies that have examined the red cell indices in alpha thalassaemia, present cohort showed significantly lower MCV (52-53 fL) giving an impression of additional pathology.…”

Section: Discussionsupporting

confidence: 92%

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

Osman

¹

,

Hamid

²

,

Ahmad

³

et al. 2020

BMC Res Notes

2

0

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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 × 10 12 /L in adult males and 7.21 ± 0.67 × 10 12 /L in adult females while in children were 5.07 ± 0.87 × 10 12 /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 α 3.7 deletion has frequency of 0.07 in Sudanese with hypochromasia and microcytosis. Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.

show abstract

“…This was previously reported (14) , where alpha thalassemia trait patients were characterized by slight reduction in haemoglobin level. The MCV and MCH showed microcytosis and hypochromasia in adults, and this finding is consistent with many previous studies concerning the contribution of alpha thalassemia to microcytosis and hypochromia (20,22,23,24,25,26,27,28) , while others (14,21) reported slight microcytosis and hypochromasia or sometimes normal with alpha thalassemia trait. Unlike many other similar studies that have examined the red cell indices in alpha thalassaemia, present cohort showed significantly lower MCV (52-53fL) giving an impression of additional pathology.…”

Section: Methodssupporting

confidence: 92%

Prevalence of 3.7 and 4.2 Deletions in Sudanese Patients with Red Cells Hypochromia and Microcytosis

Osman

¹

,

Hamid

²

,

Ahmad³

et al. 2020

Preprint

0

View full text Add to dashboard Cite

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±0.78×10 12 /L in adult males and 7.21±0.67×10 12 /L in adult females while in children were 5.07±0.87×10 12 /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 b-thalassemia. The study concluded that α 3.7 deletion has frequency of 0.07 in Sudanese with hypochromasia and microcytosis.

show abstract

Diagnóstico molecular da talassemia a+ (deleção -a3.7) em indivíduos com microcitose e/ou hipocromia atendidos no Hemocentro Dalton Barbosa Cunha em Natal, Rio Grande do Norte

Abstract: Molecular diagnosis of a + thalassemia (-a 3.7 deletion) in individuals with microcytosis and/or hypochromia treated in the Dalton Barbosa Cunha Blood center, Natal, Brazil

Cited by 6 publications

References 0 publications

Prevalence of 3.7 and 4.2 Deletions in Sudanese Patients with Red Cells Hypochromia and Microcytosis

Prevalence of 3.7 and 4.2 Deletions in Sudanese Patients with Red Cells Hypochromia and Microcytosis

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

Prevalence of 3.7 and 4.2 Deletions in Sudanese Patients with Red Cells Hypochromia and Microcytosis

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