Genotyping of alpha-thalassemia in microcytic hypochromic anemia patients from North India

Sankar, V H; Arya, Varun; Tewari, Deepshikha; Gupta, Urvashi; Pradhan, Mandakini; Agarwal, Sarita

doi:10.1007/bf03194650

Cited by 18 publications

(16 citation statements)

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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

et al. 2020

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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.

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Section: Discussionsupporting

confidence: 92%

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

et al. 2020

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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 (20,22,23,24,25,26,27,28) , 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

Hamid

Ahmad³

et al. 2020

Preprint

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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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“…reported a study of 276 cases, and found that 33 of these individuals had –α 3.7 deletions (12%), seven of them with concurrent SS/Sβ-thalassemia [19]. Similar results were published by Nava et al ., who found –α 3.7 deletions to be the most common mutations in the α-globin chain, and observed –α 3.7 deletion and anti-3.7 gene triplication with the presence of the sickle cell trait in 17 and in three cases respectively [20].…”

Section: Discussionsupporting

confidence: 74%

β-Globin chain abnormalities with coexisting α-thalassemia mutations

Güvenç¹,

Canataroğlu²,

Unsal³

et al. 2012

aoms

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IntroductionThe frequency of hemoglobinopathies is still high in Adana, the biggest city of the Cukurova Region that is located in the southern part of Turkey. Our aim was to identify the concomitant mutations in α- and β-globin genes which lead to complex hemoglobinopathies and to establish an appropriate plan of action for each subject, particularly when prenatal diagnosis is necessary.Material and methodsWe studied the association between the β-globin gene and α-thalassemia genotypes. The reverse hybridization technique was employed to perform molecular analysis, and the results were confirmed by amplification refractory mutation system (ARMS) or restriction fragment length polymorphism (RFLP) technique.ResultsWe evaluated 36 adult subjects (28 female and 8 male; age range: 18-52 years) with concomitant mutations in their α- and β-globin genes. The –α3.7/αα deletion was the commonest defect in the α-chain as expected, followed by α3.7/–α3.7 deletion. Twenty-five of 36 cases were sickle cell trait with coexisting α-thalassemia, while seven Hb S/S patients had concurrent mutations in their α-genes. The coexistence of αPolyA-2α/αα with Hb A/D and with Hb S/D, which is very uncommon, was also detected. There was a subject with compound heterozygosity for β-globin chain (–α3.7/αα with IVSI.110/S), and also a case who had –α3.7/αα deletion with IVSI.110/A.ConclusionsAlthough limited, our data suggest that it would be valuable to study coexisting α-globin mutations in subjects with sickle cell disease or β-thalassemia trait during the screening programs for premarital couples, especially in populations with a high frequency of hemoglobinopathies.

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Genotyping of alpha-thalassemia in microcytic hypochromic anemia patients from North India

Cited by 18 publications

References 18 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

β-Globin chain abnormalities with coexisting α-thalassemia mutations

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