Screening for beta thalassaemia

Petrou, Mary

doi:10.4103/0971-6866.64934

Cited by 17 publications

(17 citation statements)

References 26 publications

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“…It is major socio-demographic problem because parents of more than half of thalassemic children cannot afford costly therapeutic abortion and chelating therapy due to limitation of their resources. It is concordant with studies of other researchers 4 also. The gender of thalassemic children was inquired.…”

Section: Discussionsupporting

confidence: 82%

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Socio-Demographic Determinants; Thalassimic Children

Malik

Shahid

2017

TPMJ

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ABSTRACT… Background: Thalassemic children require regular multiple blood transfusions. It leads to multiple complications such as blood born infections, iron over load (Haemosidrosis) and spleen enlargement. Thalassemia transmission to future generations can be prevented and life of thalassemic children can also be prolonged by proper devoted pre-marital and intra uterine life management and mitigation of fatal complications. Objectives: The objective of this study was to assess the socio-demographic determinants of thalassemic children. Study Design: Descriptive study. Setting: Thalassemia Centre Bahawal Victoria Hospital Bahawalpur. Period: One year from January 1, 2016 to December 31, 2016. Material and Method: Parents /guardians of 200 diagnosed children as thalassemic, who were receiving blood transfusions were selected for interview. The data was collected by Pre-designed Performa to assess sociodemographic determinants. The data was analyzed to formulate hypothesis. Results: It was found that maximum number of patients coming for blood transfusion were from 7-9 years and 10 years and above contributing 30% each while 4-6 years were 24% showing that majority of people seeking for frequent blood transfusion service were over 4 years of age in this area. At least one thalassemic child death was disclosed by 32 (16%) families. The birth order of the present thalassemic child as 2 nd one was told by 60 (30%) parents. There were 72 (36%) coming from distance <20 km which shows maximum utility of this center by local area population. It was found that 104 (52%) belong to poor socio-economic class. There were 188 (94%) children receiving blood transfusion from teaching hospital blood transfusion center where as 100 (50%) blood donors were unknown people. There were 104 (52%) children who were never checked for Hepatitis C virus markers while 116 (58%) mothers were illiterate. Regular use of iron chelating therapy was found to be 8% only. There were 128 (64%) marriages proposed by parents and 72 (36%) enforced by grand elders resulting 144 (72%) marriages with first cousins. There were 160 (80%) consanguineous marriages and 188 (94%) without premarital thalassemia test. There were 142 (71%) new born deliveries without prenatal thalassemia test. Conclusion: The enforced consanguineous marriages, lack of pre-marital and pre-natal diagnosis, poverty, illiteracy and lack of iron chelating agent support are the thalassemia problem exaggerating factors. Reducing magnitude of these problems can mitigate over load and socio-demographic constraints of thalassemic patients in our country.

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Section: Discussionsupporting

confidence: 82%

“…The like or dislike right of children has no value among these families. It is mentioned in another study 4 that 98% of at risk couples who were detected to be thalassemic carrier very close to marriage ceremony proceed to marry.…”

Section: Discussionmentioning

confidence: 99%

Socio-Demographic Determinants; Thalassimic Children

Malik

Shahid

2017

TPMJ

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“…Success was most evident in programmes including free PND and legal accessible therapeutic abortion [3,4,13,24,28]. As a comparison, less than 5% of the 100% success rates of programmes implemented in the Mediterranean region in the 1970s (table 3) was attributed to the separation of engaged at-risk couples [15]. …”

Section: Discussionmentioning

confidence: 99%

“…Similar programmes were implemented in Italy and Greece, also achieving 100% β-thalassaemia birth reductions [12,14]. As less than 5% of the reductions were attributed to separation of engaged couples, success was linked to the provision of free PND and the availability of abortion, effective education and counselling [3,15]. …”

Section: Introductionmentioning

confidence: 99%

Exploring the Effectiveness of Mandatory Premarital Screening and Genetic Counselling Programmes for β-Thalassaemia in the Middle East: A Scoping Review

Saffi

Howard

2015

Public Health Genomics

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Background: β-Thalassaemia is a common genetic blood disorder in the Middle Eastern region. Mandatory premarital screening and genetic counselling (PMSGC) programmes are implemented in 8 Middle East countries to reduce at-risk marriages and thus disease prevalence. A scoping review was conducted to explore the effectiveness of these programmes. Methods: The 6-stage scoping framework of Arksey and O'Malley [Int J Soc Res Methodol 2005;8:19-32] was used. Reported outcomes were analysed per country, with success defined as achieving a 65% reduction in at-risk marriages and/or thalassaemia-affected births. Emergent enablers and barriers were analysed thematically. Results: Twenty-one sources were included from the 1,348 identified, discussing 7 country programmes, with 95% (20/21) published during 2003-2013. Five publications each were included for Iran and Saudi Arabia, 3 for Turkey, 2 each for Bahrain and Iraq (Kurdistan), and 1 for the United Arab Emirates, plus 2 multi-country evaluations. No programme achieved a 65% at-risk marriage cancellation rate. Though data on thalassaemia-affected birth reductions were minimal, programmes in Iran, Turkey and Iraq reported at least 65% reductions. A thematic analysis found that screening timing, access to prenatal detection and abortion, socio-religious issues, awareness and counselling affected decisions. Conclusion: This review found that PMSGC programmes were unsuccessful in discouraging at-risk marriages but successful in reducing the prevalence of affected births in countries providing prenatal detection and therapeutic abortion. A life cycle approach to prevention, incorporation of school screening, awareness campaigns, reconsideration of therapeutic abortion, and screening and counselling of couples married prior to programme inception are likely to improve the effectiveness of such programmes in the Middle Eastern region.

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“…Without access to regular chelation treatment and medical care, the majority of children with Thalassemia major do not reach the age of 20. 23 Regular transfusion therapy to maintain hemoglobin levels of at least 9 to 10 g per deciliter allows for improved growth and development and also reduces hepatosplenomegaly due to extramedullary hematopoiesis as well as bone deformities. Impairment of growth and endocrinopathies, particularly hypogonadism, are common features of thalassemia.…”

Section: Treatmentmentioning

confidence: 99%

Beta thalassemia - a review

Jha

2014

J Pathol Nep

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Thalassemia is a globin gene disorder that results in a diminished rate of synthesis of one or more of the globin chains. About 1.5% of the global population (80 to 90 million people) are carriers of beta Thalassemia. More than 200 mutations are described in beta thalassemia. However not all mutations are common in different ethnic groups. The only effective way to reduce burden of thalassemia is to prevent birth of homozygotes. Diagnosis of beta thalassemia can be done by fetal DNA analysis for molecular defects of beta thalassemia or by fetal blood analysis. Hematopoietic stem cell transplantation is the only available curative approach for Thalassemia. Many patients with thalassemia in underdeveloped nations die in childhood or adolescence. Programs that provide acceptable care, including transfusion of safe blood and supportive therapy including chelation must be established.DOI: http://dx.doi.org/10.3126/jpn.v4i8.11609 Journal of Pathology of Nepal; Vol.4,No. 8 (2014) 663-671

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Screening for beta thalassaemia

Cited by 17 publications

References 26 publications

Socio-Demographic Determinants; Thalassimic Children

Socio-Demographic Determinants; Thalassimic Children

Exploring the Effectiveness of Mandatory Premarital Screening and Genetic Counselling Programmes for β-Thalassaemia in the Middle East: A Scoping Review

Beta thalassemia - a review

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