A novel Aγδβ0-thalassemia caused by DNA deletion–inversion–insertion of the β-globin gene cluster and five olfactory receptor genes: Genetic interactions, hematological phenotypes and molecular characterization

Singha, Kritsada; Fucharoen, Goonnapa; Hama, Abdulloh; Fucharoen, Supan

doi:10.1016/j.clinbiochem.2015.03.023

Cited by 13 publications

(10 citation statements)

References 19 publications

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“…Moreover, ORs gene cluster is upstream of the β‐globin gene cluster, which might play a regulatory role in gamma‐globin gene expression. Besides, five OR genes and the mutation of the β‐globin gene cluster induce a novel (A)γδβ(0)‐ thalassemia process (Singha, Fucharoen, Hama, & Fucharoen, ). Five OR genes are OR51V1, OR52Z1, OR51A1P, OR52A1, and OR52A5, respectively.…”

Section: The Role and Mechanism Of Ectopic Olfactory Receptors In Nonmentioning

confidence: 99%

The diversified function and potential therapy of ectopic olfactory receptors in non‐olfactory tissues

Chen

Zhao

et al. 2017

Journal Cellular Physiology

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Olfactory receptors (ORs) are mainly distributed in olfactory neurons and play a key role in detecting volatile odorants, eventually resulting in the production of smell perception. Recently, it is also reported that ORs are expressed in non-olfactory tissues including heart, lung, sperm, skin, and cancerous tissues. Interestingly, ectopic ORs are associated with the development of diseases in non-olfactory tissues. For instance, ectopic ORs initiate the hypoxic ventilatory responses and maintain the oxygen homeostasis of breathing in the carotid body when oxygen levels decline. Ectopic ORs induce glucose homeostasis in diabetes. Ectopic ORs regulate systemic blood pressure by increasing renin secretion and vasodilation. Ectopic ORs participate in the process of tumor cell proliferation, apoptosis, metastasis, and invasiveness. Ectopic ORs accelerate the occurrence of obesity, angiogenesis and wound-healing processes. Ectopic ORs affect fetal hemoglobin levels in sickle cell anemia and thalassemia. Finally, we also elaborate some ligands targeting for ORs. Obviously, the diversified function and related signal pathway of ectopic ORs may play a potential therapeutic target in non-olfactory tissues. Thus, this review focuses on the latest research results about the diversified function and therapeutic potential of ectopic ORs in non-olfactory tissues.

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Section: The Role and Mechanism Of Ectopic Olfactory Receptors In Nonmentioning

confidence: 99%

The diversified function and potential therapy of ectopic olfactory receptors in non‐olfactory tissues

Chen

Zhao

et al. 2017

Journal Cellular Physiology

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“…Hb analysis was performed using an automated high-performance liquid chromatography (HPLC) analyzer (Variant TM , Bio-Rad laboratories, Hercules, CA, USA) or the capillary electrophoresis (CapillaryS 2; Sebia, Lisses, France). Common α-thalassemia (-SEA ,-THAI , -α 3.7 , -α 4.2 , Hb Constant Spring (HBA2:c.427T>C), Hb Pakse ´(HBA2:c.429A>T), β-thalassemia, Hb E, abnormal Hbs and high Hb F determinants mutations found in Thailand were routinely identified by PCR-based methods as described elsewhere [4,5,9,11,12].…”

Section: Subjects Hematological and Dna Analysesmentioning

confidence: 99%

“…Only compound heterozygous for δβ 0 -thalassemia/β 0 -thalassemia is associated with severe β-thalassemia syndrome, requiring PND during pregnancy [28]. Other forms of high Hb F determinants including Hb E-δβ 0 -thalassemia, Hb E-HPFH, homozygous δβ 0 -thalassemia, δβ 0 -thalassemia/ HPFH, and HPFH/β-thalassemia are all associated with mild phenotype of thalassemia or clinically normal [5,[29][30][31][32]. As for β + -thalassemia, screening of these high Hb F determinants in the couple at risk before making a decision on PND is recommended.…”

Section: Plos Onementioning

confidence: 99%

“…In Thailand, the prevalence of 20-30% αthalassemia, 3-9% β-thalassemia, 20-30% Hb E, and 1-8% Hb Constant Spring have been reported [3]. Other forms of hemoglobinopathies are occasionally documented [4,5]. The high prevalence of these genetic abnormalities can lead to diverse heterogeneity of thalassemia and hemoglobinopathies and several complex thalassemia syndromes.…”

Section: Introductionmentioning

confidence: 99%

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Frequency of unnecessary prenatal diagnosis of hemoglobinopathies: A large retrospective analysis and implication to improvement of the control program

et al. 2023

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Objective To determine the frequency and etiology of unnecessary prenatal diagnosis for hemoglobinopathies during 12 years of services at a single university center in Thailand. Methods We conducted a retrospective cohort analysis of prenatal diagnosis during 2009–2021. A total of 4,932 couples at risk and 4,946 fetal specimens, including fetal blood (5.6%), amniotic fluid (92.3%), and chorionic villus samples (2.2%) were analyzed. Identification of mutations causing hemoglobinopathies was carried out by PCR-based methods. Maternal contamination was monitored by analysis of the D1S80 VNTR locus. Results Among 4,946 fetal specimens, 12 were excluded because of poor PCR amplification, maternal contamination, non-paternity, and inconsistency of the results of the fetuses and parents. Breakdown of 4,934 fetuses revealed 3,880 (78.6%) at risk for the three severe thalassemia diseases, including β-thalassemia major, Hb E-β-thalassemia, and homozygous α0-thalassemia, 58 (1.2%) at risk for other α-thalassemia diseases, 168 (3.4%) at risk for β+-thalassemia, 109 (2.2%) at risk for high Hb F determinants, 16 (0.3%) at risk for abnormal Hbs, and 294 (6.0%) with no risk of having severe hemoglobinopathies. The parents of 409 (8.3%) fetuses had inadequate data for fetal risk assessment. Overall, we encountered unnecessary prenatal diagnostic requests for 645 (13.1%) fetuses. Conclusions The frequency of unnecessary prenatal diagnosis was high. This could lead to unnecessary risk of complications associated with fetal specimen collection, psychological impacts to the pregnant women and their families, as well as laboratory expenses and workload.

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“…gene deletions causing high Hb F determinants previously described in Thai population was identified. 3 As shown in Figure 1, further PCR analysis of this mutation using three specific primers, G9…”

mentioning

confidence: 99%

Genotype and phenotype characteristics of homozygous and compound heterozygous β‐thalassemia with 3.4 kb deletion

Soontornpanawet

Singha

Fucharoen

2022

Int J Lab Hematology

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Genotype and phenotype characteristics of homozygous and compound heterozygous β-thalassemia with 3.4 kb deletion Dear Editors, β-thalassemia is an inherited haemoglobin (Hb) disorders caused by deletional and non-deletional mutations in the β-globin gene leading to absent (β 0 -thalassemia) or decreased (β + -thalassemia) β-globin chain synthesis. Heterozygous β-thalassemia is symptomless and associated with elevated Hb A 2 . However, homozygous or compound heterozygous β-thalassemia is generally associated with transfusion dependent thalassemia major. 1 We received blood specimen of an adult female who had anaemia for thalassemia investigation. Ethical approval of the study was obtained from the Institutional Review

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A novel Aγδβ0-thalassemia caused by DNA deletion–inversion–insertion of the β-globin gene cluster and five olfactory receptor genes: Genetic interactions, hematological phenotypes and molecular characterization

Cited by 13 publications

References 19 publications

The diversified function and potential therapy of ectopic olfactory receptors in non‐olfactory tissues

The diversified function and potential therapy of ectopic olfactory receptors in non‐olfactory tissues

Frequency of unnecessary prenatal diagnosis of hemoglobinopathies: A large retrospective analysis and implication to improvement of the control program

Genotype and phenotype characteristics of homozygous and compound heterozygous β‐thalassemia with 3.4 kb deletion

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