Phenotype and Genotype Frequency of β-Thalassemia and Sickle Cell Disease Carriers in Halkidiki, Northern Greece

Kalleas, Christoforos; Αναγνωστόπουλος, Κωνσταντίνος; Sinopoulou, Klio; Delaki, Evaggelia-Eleni; Margaritis, Dimitrios; Bourikas, Georgios; Tsatalas, Constantinos; Kortsaris, A.; Tentes, Ioannis

doi:10.3109/03630269.2011.642489

Cited by 10 publications

(8 citation statements)

References 13 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…A recent survey of β S and beta thalassaemia within the Chalkidhiki peninsular (Kalleas et al, 2012) provides more detail about the modern day pattern of beta globin variants in one of the Greek β S hotspots. It is striking that the distribution of β S is highly patchy within the peninsular (see Fig.…”

Section: Discussionmentioning

confidence: 99%

The emergence and maintenance of sickle cell hotspots in the Mediterranean

Penman

Gupta

Buckee

2012

Infection, Genetics and Evolution

View full text Add to dashboard Cite

show abstract

Section: Discussionmentioning

confidence: 99%

The emergence and maintenance of sickle cell hotspots in the Mediterranean

Penman

Gupta

Buckee

2012

Infection, Genetics and Evolution

View full text Add to dashboard Cite

show abstract

“…Its distribution is very uneven and frequencies as high as 15% have been reported in certain geographic areas (5). For example, in Halkidiki, of 3931 hospitalized patients screened for haemoglobinopathies, 10.8% were identified as heterozygotes for beta-thalassaemia (6). Equally, molecular analysis of 199 unrelated patients in south-western Greece confirmed distinct distribution patterns of specific mutations of the HBB gene in the Achaia and Ilia prefectures (7).…”

Section: Introductionmentioning

confidence: 95%

Access to health care for patients with thalassaemia in Greece: a cross-sectional study

Souliotis

Golna²,

Nikolaidi

et al. 2020

East Mediterr Health J.

View full text Add to dashboard Cite

Background: The prevalence and clinical burden of beta-thalassaemia in Greece is high. Little information is available on the unmet needs of patients with beta-thalassaemia and barriers to access to care. Aims: This study investigated barriers that patients with transfusion-dependent beta-thalassaemia in Greece face when accessing care and the associations between socioeconomic factors and access to care. Methods: A cross-sectional study was conducted between November 2018 and January 2019. The sample consisted of 116 beta-thalassaemia patient-members of the two Panhellenic patient associations for people with thalassaemia. All respondents were transfusion-dependent. The survey customized and used the Patient Access Partnership 5As of access tool to measure participants' access to health care services (subscales: accessibility, adequacy, affordability, appropriateness and availability). Data on their socioeconomic characteristics were also recorded. The association between the total score of each subscale and patient characteristics was examined using the Mann-Whitney or Kruskal-Wallis tests. Results: Respondents considered inpatient services less adequate and appropriate, and 1 / 12 WHO EMRO | Access to health care for patients with thalassaemia in Greece: a cross-sectional study outpatient services and laboratory tests less affordable. Outpatient services were also perceived as less available. Participants' income was statistically significantly associated with all the subscales except accessibility, and rural residence was significantly associated with all five subscales. Conclusion: Barriers in access to health care among beta-thalassaemia patients receiving transfusions still persist, especially for those who live far from transfusion centres and have lower incomes. It is important to understand and map current unmet medical and social needs of beta-thalassaemia patients in Greece, in order to design and implement a targeted health policy that can measurably improve patients' lives.

show abstract

“…It is believed that codon 39 (C> T) is of Roman origin, and has a high prevalence in Sardinia, mainland Italy, Spain, Portugal and Tunisia (19). Different studies also found this mutation to be frequent in Venezuela (18), Northern Greece (20), Syria (21), and confirmed it in Tunisia (22) and Italy (23).…”

mentioning

confidence: 75%

Use of an automated pyrosequencing technique for confirmation of Sickle Cell Disease

Martino

Alencar

Loureiro

et al. 2019

Preprint

View full text Add to dashboard Cite

22Background: The diagnosis of sickle cell disease (SCD) is made by hemoglobin assays such 23 as high-performance liquid chromatography (HPLC), isoelectric focusing and cellulose 24 acetate or citrate agar electrophoresis. These assays are easy to perform and used in large-25 scale newborn screening in many countries. These tests however may not easily differentiate 26 Sβ 0 thalassemia from SS or identify other hemoglobin variants, and in this case, hemoglobin 27 (HBB) gene sequencing may be necessary. Objectives: To develop a high throughput DNA 28 based confirmatory assay for SCD and to detect mutations in the HBB gene. Methods: We 29 developed an automated pyrosequencing technique (PyS) based on QIAGEN technology 30 (Hilden, Germany) to detect homozygous or heterozygous hemoglobin S mutations as well as 31 hemoglobin C mutations. The technique was tested on 2,748 samples from patients enrolled in 32 a multi-center SCD cohort in Brazil. Patients were previously tested using HPLC to diagnose 33 SCD as part of routine clinical care. Any subjects with discrepant results between HPLC and 34 PyS or with heterozygous hemoglobin S detected had Sanger sequencing of the HBB gene.35 Results: We identified 168 samples with discrepant results between HPLC and PyS and 100 36 with concordant HPLC and PyS= heterozygous S, which would suggest Sβ-thalassemia or 37 other hemoglobin S variants. The PyS assay correctly identified 1906 (98.7%) of the 1930 38 HbSS and 628 (98.7%) of the 636 HbSC samples. Of the 179 remaining samples, PyS 39 correctly indicated S heterozygosis in 165 (92.2%). Of the 165 heterozygous S samples 40 confirmed by Sanger as consistent with Sβ thalassemia genotype, 84 samples were classified 41 as Sβ 0 thalassemia and 81 as Sβ + thalassemia. The most frequent beta thalassemia mutations 42 of Sβ 0 and Sβ + were HBB: c.118C>T (Gln40Stop) and HBB c.92 + 6T> C, respectively.43Discussion: The PyS proved to be satisfactory for large-scale confirmatory testing of 44 hemoglobin mutation. Moreover, with this study we were able to describe the most common 45 3 β + and β 0 mutations in SCD patients with Sβ-thalassemia in a large multi-institutional SCD 46 cohort in Brazil. 47

show abstract

Phenotype and Genotype Frequency of β-Thalassemia and Sickle Cell Disease Carriers in Halkidiki, Northern Greece

Cited by 10 publications

References 13 publications

The emergence and maintenance of sickle cell hotspots in the Mediterranean

The emergence and maintenance of sickle cell hotspots in the Mediterranean

Access to health care for patients with thalassaemia in Greece: a cross-sectional study

Use of an automated pyrosequencing technique for confirmation of Sickle Cell Disease

Contact Info

Product

Resources

About