Prevalence of hemoglobinopathies among marrying couples in Erbil province of Iraq

Polus, Ranan Kardagh

doi:10.4103/ijh.ijh_27_17

Cited by 13 publications

(9 citation statements)

References 1 publication

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“…We know much about β-thalassaemia in northern Iraq. Many studies have described the spectrum of β-globin gene mutations, the carrier rate, and the genotypic mechanisms in both thalassaemia major and thalassaemia intermedia [ 14 – 19 ]. Scrutinizing α-thalassaemia is not as easy as for β-thalassaemia because of the lower carrier rate in our region, and the difficulty in confirming diagnosis of α-thalassaemia carriers via the routine Hb-electrophoresis.…”

Section: Discussionmentioning

confidence: 99%

Genotype-phenotype correlation of HbH disease in northern Iraq

et al. 2020

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Background HbH disease results from dysfunction of three, less commonly two, α-globin genes through various combinations of deletion and non-deletion mutations. Characterization of the mutations and the underlying genotypes is fundamental for proper screening and prevention of thalassaemia in any region. The aim of this study was to explore the genetic arrangements of HbH disease and to correlate the genotypes with the clinical phenotypes. Methods A total of 44 HbH disease patients were enrolled in this study. They were clinically and haematologically assessed. The patients were tested for 21 common α-globin gene mutations using multiplex PCR and reverse hybridization. According to the genotype, the patients were categorized into two separate sub-groups, deletion and non-deletion types HbH disease. Results Within the studied HbH disease patients, eight different α-globin gene mutations were detected in nine different genetic arrangements. The --MED and -α3.7 deletions were the two most frequently encountered mutations (37.5 and 35.2% respectively). Patients with deletion genotypes constituted 70.4%. The most common detected genotype was --MED/−α3.7 (59.1%), followed by αpoly-A1α/αpoly-A1α (13.6%). For the first time, coinheritance of two relatively mild mutations (−α3.7/ααAdana) was unpredictably detected in a 1.5 year-old child with Hb of 7.1 g/dL. Conclusion The HbH disease patients’ clinical characteristics were variable with no ample difference between the deletion and non-deletion types. These results can be of benefit for the screening and management of thalassaemia in this region.

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Section: Discussionmentioning

confidence: 99%

Genotype-phenotype correlation of HbH disease in northern Iraq

et al. 2020

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“…We know much about β-thalassaemia in northern Iraq. Many studies have described the spectrum of β-globin gene mutations, the carrier rate, and the genotypic mechanisms in both thalassaemia major and thalassaemia intermedia [14][15][16][17][18][19]. Scrutinizing α-thalassaemia is not as easy as for β-thalassaemia because of the lower carrier rate in our region, and the di culty in con rming diagnosis of αthalassaemia carriers via the routine Hb-electrophoresis.…”

Section: Discussionmentioning

confidence: 92%

Genotype-Phenotype Correlation of HbH Disease in Northern Iraq

Shamoon

Yassin

Polus

et al. 2020

Preprint

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Background: HbH disease results from dysfunction of three, less commonly two, α-globin genes through various combinations of deletion and non-deletion mutations. Characterization of the mutations and the underlying genotypes is fundamental for proper screening and prevention of thalassaemia in any region. The aim of this study was to explore the genetic arrangements of HbH disease and to correlate the genotypes with the clinical phenotypes.Methods: A total of 44 HbH disease patients were enrolled in this study. They were clinically and haematologically assessed. The patients were tested for 21 common α-globin gene mutations using multiplex PCR and reverse hybridization. According to the genotype, the patients were categorized into two separate sub-groups, deletion and non-deletion types HbH disease. Results: Within the studied HbH disease patients, eight different α-globin gene mutations were detected in nine different genetic arrangements. The --MED and -α3.7 deletions were the two most frequently encountered mutations (37.5% and 35.2% respectively). Patients with deletion genotypes constituted 70.4%. The most common detected genotype was --MED/-α3.7 (59.1%), followed by αpoly-A1α/αpoly-A1α (13.6%). For the first time, coinheritance of two relatively mild mutations (-α3.7/ααAdana) was unpredictably detected in a 1.5 year-old child with Hb of 7.1 g/dL. Conclusion: The HbH disease patients’ clinical characteristics were variable with no ample difference between the deletion and non-deletion types. These results can be of benefit for the screening and management of thalassaemia in this region.

show abstract

“…We know much about β-thalassaemia in northern Iraq. Many studies have described the spectrum of beta-globin gene mutations, the carrier rate, and the genotypic mechanisms in both thalassaemia major and thalassaemia intermedia [14][15][16][17][18][19]. Scrutinizing αthalassaemia is not as easy as for β-thalassaemia because of the lower carrier rate in our region, and the difficulty in confirming diagnosis α-thalassaemia carriers via the routine Hb-electrophoresis.…”

Section: Discussionmentioning

confidence: 92%

Genotype-Phenotype Correlation of HbH Disease in Northern Iraq

Shamoon

Yassin

Polus

et al. 2020

Preprint

View full text Add to dashboard Cite

Background: HbH disease results from dysfunction of three, less commonly two, α-globin genes through various combinations of deletion and non-deletion mutations. Characterization of the mutations and the underlying genotypes is fundamental for proper screening and prevention of thalassaemia in any region. The aim of this study was to explore the genetic arrangements of HbH disease and to correlate the genotypes with the clinical phenotypes.Method: A total of 44 HbH disease patients were enrolled in this study. They were clinically and haematologically assessed. The patients were tested for 21 common α-globin gene mutations using multiplex PCR and reverse hybridization. According to the genotype, the patients were categorized into two separate sub-groups, deletion and non-deletion types HbH disease. Results: Within the studied HbH disease patients, eight different α-globin gene mutations were detected in nine different genetic arrangements. The --MED and -α3.7 deletions were the two most frequently encountered mutations (37.5% and 35.2% respectively). Patients with deletion genotypes constituted 70.4%. The most common detected genotype was --MED/-α3.7 (59.1%), followed by αpoly-A1α/αpoly-A1α (13.6%). For the first time, coinheritance of two relatively mutations (-α3.7/ααAdana) was unpredictably detected in a 1.5 year-old child with Hb of 7.1 g/dL. Conclusion: The HbH disease patients’ clinical characteristics were variable with no ample difference between the deletion and non-deletion types. These results can be of benefit for the screening and management of thalassaemia in this region.

show abstract

Prevalence of hemoglobinopathies among marrying couples in Erbil province of Iraq

Cited by 13 publications

References 1 publication

Genotype-phenotype correlation of HbH disease in northern Iraq

Genotype-phenotype correlation of HbH disease in northern Iraq

Genotype-Phenotype Correlation of HbH Disease in Northern Iraq

Genotype-Phenotype Correlation of HbH Disease in Northern Iraq

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