Impediments to prenatal diagnosis for beta thalassaemia: experiences from Pakistan

Naseem, Sajida; Ahmed, Suhaib; Vahidy, Farhaan S

doi:10.1002/pd.2133

Cited by 11 publications

(9 citation statements)

References 7 publications

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“…If parents of children with thalassemia would have higher level of education, they can better understand the importance of prenatal diagnosis. [13] In this study we found that 12.7% children with thalassemia were born from consanguineous marriage. The frequency of consanguineous marriage in our study was much less as compared to that from a study conducted in Pakistan where cousin marriages were found to be high due to religious and cultural beliefs.…”

Section: Discussionmentioning

confidence: 70%

Awareness among parents of children with thalassemia major from Western India

Goyal¹,

Hpapani²,

Gagiya³

2015

Int J Med Sci Public Health

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severe anemia, ineffective erythropoiesis, extramedullary hematopoiesis, and iron overload resulting from transfusion and increased iron absorption. [2,3] The definitive treatment of thalassemia is bone marrow transplantation, which is beyond the reach of many patients in this country. [4] The best way to reduce the burden of thalassemia is prevention. However, the quality of life of children with thalassemia should be improved. There are different strategies to prevent thalassemia, which include parental awareness, population screening, genetic counseling, and prenatal diagnosis. [5-7] Creating awareness and educating parents proved to be cost-effective in the prevention of the disease and improvement of quality of life of patients with thalassemia. In our country, there are studies on population screening and prenatal diagnosis of thalassemia, but there is paucity of data Background: Parental awareness is the best way to prevent thalassemia in children. Parental knowledge regarding transfusion and chelation helps to improve the quality of life of children with thalassemia. Objective: To determine awareness among parents of children with thalassemia major regarding the transfusion practices and iron chelation. Materials and Methods: This cross-sectional study was conducted at the thalassemia ward of KT Children Hospital and PDU Medical College, Rajkot, Gujarat, India, from August to October 2012. Parents of children with thalassemia, receiving blood transfusion from PDU Medical College Blood Bank, were interviewed using a predesigned questionnaire. Informed verbal and written consent was obtained from these parents. Questions regarding duration of illness, awareness about blood screening, mode of transmission of the disease, and knowledge and practices about prevention and treatment of the disease were asked. Result: A total of 110 caretakers were questioned. A majority of them were from low socioeconomic class and 18% were illiterate. Among the parents of children undergoing transfusion, only 15.8% knew the importance of blood screening. Although all parents knew about iron overload, but only 48% of the children were receiving iron chelation therapy adequately. Despite of the fact that 15% were aware that thalassemia is an inherited disorder, family screening of sibling and antenatal diagnosis in subsequent pregnancies were done in only 5.8% and 5% respectively. Conclusion: Awareness of the parents regarding the disease was inadequate. General public and parents of children with thalassemia should be sensitized in this regard.

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Section: Discussionmentioning

confidence: 70%

Awareness among parents of children with thalassemia major from Western India

Goyal¹,

Hpapani²,

Gagiya³

2015

Int J Med Sci Public Health

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“…The main reasons for underutilization of PND include economic and logistic factors like travelling of pregnant women to distant cities for CVS. 16 The present collaborative set up between NIBGE and MINAR for arranging the CVS and blood sampling at MINAR, and molecular analysis at NIBGE will greatly facilitate prevention of b-thalassemia in this district. Of the 105 couples analyzed so far under this program, 20 were unrelated but they also have at least 1 transfusiondependent child.…”

Section: Resultsmentioning

confidence: 99%

β-Thalassemia in Pakistan

Baig

Sabih²,

Rahim³

et al. 2012

Journal of Pediatric Hematology/Oncology

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Prenatal diagnosis (PND) of β-thalassemia has been underutilized in Pakistan because of a number of social and economic factors. National Institute for Biotechnology and Genetic Engineering Faisalabad in collaboration with Multan Institute of Nuclear Medicine and Radiotherapy Multan introduced free PND service for carrier couples of Multan district. Multan has a population of about 4 million. More than 170 couples registered for retrospective PND and in 2 years 105 PND were carried out through first trimester chorionic villus sampling. Almost 90% of these couples were unable to afford the cost of PND and would not have undergone the test as free service was not available. Monoplex and Multiplex Amplification Refractory Mutation System-polymerase chain reaction and genomic DNA sequencing were used for detection of IVS (intervening sequence)-I-5 (G-C), FSC (frameshift codon)-8/9 (+G), FSC-41/42 (-TTCT), IVS-I-1 (G-T), 619 bp deletion, and CD-15 (G-A) β-globin mutations. Eighty-one percent (85/105) couples analyzed were in a consanguineous marriage. Twenty-three fetuses were found homozygous mutant and all couples opted for discontinuation of affected pregnancies. More families are registering for PND after establishment of this free and accessible PND service.

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“…Parents have to travel long distances, and the majority of them either have to fully or partially pay for these services, whereas only a small number of people receive these services free of charge. Pakistanis have a low per capita income of Rs 133,712 (US$1,372) (Ministry of Finance 2011), and research in Pakistan has shown that cost of testing is an important factor in the uptake of prenatal service (Baig et al 2006;Naseem et al 2008). Advanced genetic technology in the future is only likely to be available for a selected number of people who can afford it and may increase already existing inequalities in prenatal health care in the country.…”

Section: Discussionmentioning

confidence: 99%

Acceptability of prenatal testing and termination of pregnancy in Pakistan

Jafri¹,

Hewison

Sheridan

et al. 2014

J Community Genet

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This study aimed to assess acceptability of prenatal testing (PNT) and termination of pregnancy (TOP) for a range of conditions in Pakistani parents with and without a child with a genetic condition. A structured questionnaire assessing acceptability of PNT and TOP for 30 conditions was completed by 400 Pakistani participants: 200 parents with a child with a genetic condition (100 fathers and 100 mothers) and 200 parents without an affected child (100 fathers and 100 mothers). There was a high level of interest in PNT, where over 80 % of parents in all four study groups would want PNT for the majority of the conditions. There was comparatively less interest in TOP for the same conditions (ranging from 5 to 70 % of parents, with mothers of an affected child being most interested). Parents were most likely to be interested in TOP for conditions at the serious end of the continuum. More than half of the participants in each group would consider TOP for anencephaly and quadriplegia. The interest in PNT and TOP for a range of conditions suggests that rapidly developing PNT technologies are likely to be acceptable in Pakistan, a low-middle income level and Muslim country. The comparatively lower level of interest in TOP for the same conditions highlights ethical dilemmas that such technologies are likely to raise.

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Impediments to prenatal diagnosis for beta thalassaemia: experiences from Pakistan

Abstract: PND for thalassaemia is available in Pakistan for over a decade but its use remains limited. There is a need to increase its utilization by addressing various impediments noted in this study.

Cited by 11 publications

References 7 publications

Awareness among parents of children with thalassemia major from Western India

Awareness among parents of children with thalassemia major from Western India

β-Thalassemia in Pakistan

Acceptability of prenatal testing and termination of pregnancy in Pakistan

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