Prevention of β-Thalassemia in a Large Pakistani Family through Cascade Testing

Baig, Shahid Mahmood; Din, Mohammad Amin ud; Hassan, Hammad; Azhar, Aisha; Baig, JM; Aslam, Muhammad; Anjum, Iram; Farooq, Muhammad Shehzad; Hussain, Muhammad Sajid; Rasool, Mahmood; Nawaz, Shoaib; Qureshi, J.A.; Zaman, Tariq

doi:10.1159/000111641

Cited by 14 publications

(19 citation statements)

References 16 publications

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“…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. [14,15] The prevalence of b-thalassemia increased with consanguineous marriage as it is an autosomal recessive disorder. A study from Iran found significant association between β-thalassemia and first cousin marriage.…”

Section: Discussionmentioning

confidence: 99%

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: 99%

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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“…17 Cascade testing followed by genetic counseling and PND could be the method of choice to prevent affected births in a country like Pakistan. 7,8 More than 170 carrier couples have registered for PND under this program and 105 have already availed this service in a period of 2 years under this project. This pilot program resulted in about 10% reduction of b-thalassemia births in 2 years in Multan.…”

Section: Resultsmentioning

confidence: 99%

“…5,6 Cascade testing was also established at a limited scale to identify carriers in large consanguineous extended families for disease prevention. 7,8 As the carrier frequency of b-thalassemia is >5.6% in Pakistan, the number of thalassemia carriers is estimated to be 9 million and the resulting transfusion-dependent births poses a serious health burden. 9 It is estimated that 5000 to 7000 thalassemia major children are born each year in this country, whereas the total number of PND performed so far in the last 16 years are <3000.…”

mentioning

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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“…Cascade carrier testing is effective in other genetic disorders such as Huntington's disease, beta-thalassemia, Duchenne muscular dystrophy or fragile X syndrome [6,8,26], but it appears that the majority of at-risk family members do not have genetic testing [26]. In CF, the first experience regarding cascade carrier testing was reported in 1993 by Turner et al [12], who described the tests performed in an extended Australian family (estimated uptake rate: 21.2%).…”

Section: Discussionmentioning

confidence: 99%

“…The ultimate goal of this test is to reassure non-carrier relatives, but also to allow for early detection of couples with a 1-in-4 risk of having a CF child, who will then be able to make informed reproductive choices (such as use of prenatal diagnosis). In the absence of mutation-specific therapy for all patients, cascade carrier testing within families remains therefore a major prevention tool in the context of serious genetic diseases [5][6][7][8].…”

Section: Introductionmentioning

confidence: 99%