Haptoglobin polymorphisms in Latin American populations

Soejima, Mikiko; Koda, Yoshiro

doi:10.1038/s41598-020-70755-y

Cited by 4 publications

(9 citation statements)

References 43 publications

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“…However, these clinical features and anthropometric parameters were not significantly associated with a particular haptoglobin genotype (p > 0.05); we can also note significant differences for bacterial infections and vaso-occlusive crises suggesting that the presence of the "HP 2 " allele is a parameter favoring these clinical manifestations. This observation has also been reported by several authors (Bernard et al, 2021;Ostrowski et al, 1987;Park et al, 2004;Soejima & Koda, 2020).…”

Section: Discussionsupporting

confidence: 90%

“…The following authors Dahmani et al (2016) and Doupa et al (2017) also reported equitable transmission of the condition between the two sexes. The study population was relatively young with a median age of 9 years (Al-Saqladi et al, 2012;Bandeira et al, 2014;Costacou et al, 2008;Da Guarda et al, 2020;Eric Kerchberger et al, 2019;Gudjoncik, 2018;Langlois & Delanghe, 1996;Santos et al, 2011;Soejima & Koda, 2020;Zahran et al, 2020).…”

Section: Discussionmentioning

confidence: 99%

“…It is well known that HP possess three phenotypes/proteins, which differ in number, type of chain, and their molecular weight: HP 1-1, HP 1-2, and HP 2-2 (Santos et al, 2011). These proteins are probably not equivalent; indeed, previous studies show that patients with the HP 2-2 form would have more vascular complications (Da Guarda et al, 2020;Eric Kerchberger et al, 2019;Soejima & Koda, 2020). Moreover, this genotype would have an oxidative action while the genotype HP 1-1 has an antioxidant action (Costacou et al, 2008).…”

Section: Introductionmentioning

confidence: 99%

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Haptoglobin gene polymorphism and iron profile in sickle cell disease patients with inflammation in Yaounde, Cameroon

Tuono,

Simo,

Nya

et al. 2023

Molec Gen & Gen Med

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BackgroundMajor sickle cell syndromes are the most common hemoglobinopathy in the world. The sickle cell patients are subjected to several factors causing inflammation, and the genetic identification of each individual allows to focus the possibility of allelic variations influence of a specific gene and then the polymorphism. This study aims at determining the distribution of HP gene (OMIM#140100) and their involvement on hematological parameters and the iron profile in the sickle cell patients presenting an inflammation condition during major sickle cell syndromes in Cameroun.MethodsA case–control analytical study has been conducted over a period of 6 months. Cases consisting of sickle cell patients in a situation of inflammation and control of non‐inflamed sickle cell patients. The patients presenting major sickle cell syndromes, interned and/or followed at the Hematology Department of the Regional Hospital of Bafoussam and the Central Hospital of Yaoundé have been recruited. HP genotyping was carried out at the Laboratory for Public Health Research Biotechnologies (LAPHER‐Biotech) in Yaoundé using allele‐specific PCR. Also, inflammatory, hematological parameters and martial assessment were explored by standard methods. Statistical analysis of the data was performed using the statistical tool R version 4.1.1. The comparison of proportions of alleles was made with the chi‐square test, and the Wilcoxon test was used to compare the median between different groups using the statistical tool R version 4.1.1.ResultsWe analyzed the samples of 149 patients. The HP polymorphism describes a significant frequency of the “1F” allele (69.8%) followed by the “2” allele (46.31%). In addition, 80 patients (53.69%), 48 (32.21%), and 21 (14.09%) presented the genotype HP 1‐1, HP 2‐1, and HP 2‐2, respectively. And eighty‐one percent (81%) patients with genotype HP 2‐2 showed a significant higher relative frequency of thrombocytosis compared with the genotype HP 1‐1 and HP 2‐1, respectively (51.2% and 68.8%, p = 0.087). The proportion of inflammation in the HP 2‐2 group was higher (57.1%) compared with the other groups (respectively 42.5% and 35.4% in the HP 1‐1 and HP 2‐1 groups). Furthermore, the median CRP was significantly higher in the HP 2‐2 group compared with the other groups (p = 0.039). Moreover, the entire population of the HP 2‐2 group showed an elevation of ferritin and IL6 unlike the HP 1‐1 and HP 2‐1 groups.ConclusionThis study demonstrates a higher frequency of genotype HP 1‐1 followed by the HP 2‐2 genotype in patients with major sickle cell syndromes. However, a larger proportion of patients with genotype HP 2‐2 are associated with hematological profile disorders, inflammation, and dysregulation of iron metabolism. Then, the haptoglobin polymorphism contributes to the severity of major sickle cell syndromes.

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Section: Discussionsupporting

confidence: 90%

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Haptoglobin gene polymorphism and iron profile in sickle cell disease patients with inflammation in Yaounde, Cameroon

Tuono,

Simo,

Nya

et al. 2023

Molec Gen & Gen Med

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“…It is well known that haptoglobin possess three phenotypes/proteins, which differ in number, type of chain and their molecular weight: phenotype Hp 1‐2, phenotype Hp 1‐1, and phenotype Hp 2‐2 9 . These proteins are probably not equivalent; indeed, previous studies show that patients with the Hp 2‐2 form would have more vascular complications 10–12 . Moreover, this genotype would have an oxidative action while the genotype Hp 1‐1 has an antioxidant action 13 .…”

Section: Introductionmentioning

confidence: 99%

“…9 These proteins are probably not equivalent; indeed, previous studies show that patients with the Hp 2-2 form would have more vascular complications. [10][11][12] Moreover, this genotype would have an oxidative action while the genotype Hp 1-1 has an antioxidant action. 13 According to Langlois et al 14 the phenotype 2-2 is associated in adults with a significant elevation of serum iron, an increase in the transferrin saturation coefficient, an increase in ferritin followed however by a decrease in the concentration of soluble transferrin and/or transferrin receptors; Several other authors show the influence and impact of haptoglobin genotypes on the iron profile.…”

Section: Introductionmentioning

confidence: 99%

Homozygote drepanocytosis: Ferric status and inflammation in world and Africa: Review article and meta analysis

Tuono De Manfouo,

Louokdom,

Chetcha

et al. 2023

Health Science Reports

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Background and AimsMajor sickle cell syndromes are subjected to a high frequency of hemolysis, infections, oxidative stress, and vasooclusive crises which promote inflammation and iron balance disorders. We aimed to systematically review and analyze the studies in this patients addressing in general, and Africa in particular.MethodsThe systematic review of published articles in the Pubmed and Google Scholar databases was carried out according to the recommendations of the PRISMA model. The case‐control articles have been included. The data extracted from the articles were analyzed using statistical software R. The standardized mean difference (SMD) was used to assess the extent of the disease on the different variables studied.ResultsAt the end, 128 articles were obtained; but only 33 were elligible for meta‐analysis. A SMD of −1.79 was obtained for hemoglobin between the sickle cell patients and the controls due to the deviation from the overall mean hemoglobin in the cases (8 ± 2 g/dL) and in controls (13 ± 3 g/dL). Sickle cell disease showed a significant extent on ferritin [SMD = 2.61; (95% confidence interval, CI: 2.39–2.83); (p < 0.01)] compared to non‐sickle cell patients thus describing a higher risk for sickle cell sufferer to have ferritin disorders. The included studies also described the influence of sickle cell anemia on serum iron [SMD = 1.52; (95% CI: 1.32–1.76); (p < 0.01)] compared to normal subjects. The high risk of inflammation has been described as higher in sickle cell patients [SMD = 0.38; (95% CI: 0.25–0.50)], reflecting the moderate extent of sickle cell disease on inflammation.ConclusionPatients with major sickle cell syndrome in inflammation have a higher risk of iron profile disorders compared to the normal population. Further studies are needed to explore mechanisms for preventing the deleterious effects of iron from this hemolysis, for example haptoglobin genotyping.

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Identification and Diagnosis of Complete Haptoglobin Gene Deletion, the Gene Responsible for Adverse Posttransfusion Reactions

Soejima,

Koda

2024

Preprint

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Allergic reactions are the most frequent adverse effects of blood transfusion, and anaphylactic shock, although less frequent, is systemic and serious. The causes of allergic reactions to blood transfusions are largely unknown, but deficiencies in serum proteins such as haptoglobin (Hp) can lead to anaphylactic shock. A complete deletion of the haptoglobin gene (HPdel) was first identified in families with anomalous inheritance and then verified as a genetic variant that can cause anaphylactic shock because homozygotes of HPdel have an Hp deficiency. Thereby, they may produce antibodies against Hp from blood transfusions. HPdel is found in East and Southeast Asian populations, but not in other populations, with a frequency of approximately 0.9% to 4%. Diagnosis of Hp deficiency due to HPdel prior to transfusion is desirable because severe adverse reactions can be prevented by washing the red blood cells and/or platelets with saline or by administrating plasma products obtained from an Hp deficient donor pool. This review outlines the background of the identification of HPdel and several genetic and immunological methods developed for diagnosing Hp deficiency caused by HPdel.

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Haptoglobin polymorphisms in Latin American populations

Cited by 4 publications

References 43 publications

Haptoglobin gene polymorphism and iron profile in sickle cell disease patients with inflammation in Yaounde, Cameroon

Haptoglobin gene polymorphism and iron profile in sickle cell disease patients with inflammation in Yaounde, Cameroon

Homozygote drepanocytosis: Ferric status and inflammation in world and Africa: Review article and meta analysis

Identification and Diagnosis of Complete Haptoglobin Gene Deletion, the Gene Responsible for Adverse Posttransfusion Reactions

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