Nineteen Years Study of Beta-Thalassaemia in Slovakia

Fábryová,; Babusík, P; Laluhová-Striezencová, Z; Drakulová, M; Oslancová, M; Macichová, Michaela; Sakalová, A

doi:10.21101/cejph.a3755

Cited by 3 publications

(2 citation statements)

References 13 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…In India, the sickle cell gene is distributed mainly in Madhya Pradesh, Chhattisgarh, Maharashtra, Orissa, Jharkhand, parts of Andhra Pradesh, Kerala, Karnataka and Tamil Nadu [11]. In Chhattisgarh, the SC gene is common in various districts such as Dantewada, Bastar, Kanker, Korba, Mahasumund, Rajnandgaon, Dhamtari, Kawardha, Bilaspur, Durg, Raipur and Jangjir-Champa etc.…”

Section: Screening Of Sickle Cell Disorder In Chhattisgarh Statementioning

confidence: 99%

Incidence of Thalassemia and Sickle Cell Disease in Chhattisgarh, Central India: Using Hardy-Weinberg Equations

R¹

2014

J Mol Genet Med

View full text Add to dashboard Cite

Thalassemia and Sickle Cell Disease (SCD) both are genetic blood disorders occurring by destruction in red blood cells (RBCs). Every year about 300,000 infants worldwide are born with Thalassemia syndrome (30 per cents) and sickle cell anaemia (70 per cents. Globally, the percentage of carriers of Thalassemia is greater than that of carriers of SCA, but because of the high frequency of the sickle cell gene in certain regions the number of affected births is higher than with Thalassemia. Due to a large population, and same blood, marriage in many communities, there is always a high chance of genetic disorders in Chhattisgarh which is one of the growing states of India. The incidence of genetic blood diseases in Chhattisgarh is considered high. According to the screened population, it is observed that the prevalence of SCD was 2.1%, sickle cell trait was 10% among different tribes. Also Thalassemia gene is prevalent in different Here we are describing the challenges, including lack of knowledge about genetic disease and less facility faced by parents in the Chhattisgarh his children affected by Thalassemia and SCD. We use Hardy-Weinberg equilibrium (HWE), a genetic approach for the prediction of allelic frequencies of SCD and Thalassemia. The aim of this study is to generate carrier frequencies of both the disease using HWE and accepting a number of resources which are useful for the eradication of SCD and Thalassemia from the affected population group.

show abstract

Section: Screening Of Sickle Cell Disorder In Chhattisgarh Statementioning

confidence: 99%

Incidence of Thalassemia and Sickle Cell Disease in Chhattisgarh, Central India: Using Hardy-Weinberg Equations

R¹

2014

J Mol Genet Med

View full text Add to dashboard Cite

show abstract

“…Besides, 70 doctors from various workplaces participated in the study, who referred the patients or sent samples for examination to the above centres. The ongoing results of the study were published (7). The study lasted up to the year 2015 and the obtained results are currently presented.…”

Section: Introductionmentioning

confidence: 97%

Care for Haemoglobinopathy Patients in Slovakia

Fábryová

Božek

Drakulová

et al. 2017

Cent Eur J Public Health

Self Cite

View full text Add to dashboard Cite

show abstract

Molecular Characterization ofβ-Thalassemia in the Czech and Slovak Populations: Mediterranean, Asian and Unique Mutations

et al. 2016

View full text Add to dashboard Cite

β-Thalassemia (β-thal) is considered rare in Central Europe. As in other malaria-free regions, the presence of β-thal in Central Europe reflects historical and recent immigration, and demographic changes that have influenced the genetic variability of the current populations living in this area. This study assesses the frequency and spectrum of mutations on the β-globin gene in Czech and Slovak subjects with clinical symptoms of thalassemia. The results of the initial part of this research were published more than two decades ago; the aim of this study was to update these original reports. During the period from 2002 to 2015, 400 cases from Czech and Slovak hematological centers were analyzed. Twenty-nine β-thal mutations, identified in 356 heterozygotes from 218 unrelated families, involve five unique mutations including a recently described insertion of a transposable L1 element into the β-globin gene. One mutation described here is reported for the first time. Most of the mutations were of Mediterranean origin and accounted for 82.0% of cases. All but one case studied were heterozygous carriers, manifesting β-thal minor, with rare exceptions represented by the rare (β(0)) codons 46/47 (+G) (HBB: c.142_142dupG) mutation associated with an α-globin gene quadruplication and by dominantly inherited β-thal with a more severe phenotype. One double heterozygous β-thal patient was a recent immigrant from Moldavia. The list of δβ-thal alleles (26 carriers, 16 families) contains Hb Lepore and two types of δβ(0)-thal deletions. In the past, genetic drift and migration as well as recent immigrations were responsible for the introduction of Mediterranean alleles, while several mutations described in single families were of local origin.

show abstract

Nineteen Years Study of Beta-Thalassaemia in Slovakia

Cited by 3 publications

References 13 publications

Incidence of Thalassemia and Sickle Cell Disease in Chhattisgarh, Central India: Using Hardy-Weinberg Equations

Incidence of Thalassemia and Sickle Cell Disease in Chhattisgarh, Central India: Using Hardy-Weinberg Equations

Care for Haemoglobinopathy Patients in Slovakia

Molecular Characterization ofβ-Thalassemia in the Czech and Slovak Populations: Mediterranean, Asian and Unique Mutations

Contact Info

Product

Resources

About