Frequencies of Beta Thalassemia Mutations Show Different Pattern in Bannu Region than Other Parts of Pashtun Population in Khyber Pakhtunkhwa Province Pakistan

Rehman, Shoaib Ur; Shakeel, Muhammad; Azam, Maimoona; Akhtar, Sadaf; Ziaullah,; Niazi, Rauf

doi:10.1007/s12288-020-01361-1

Cited by 3 publications

(5 citation statements)

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“…On the other hand, the results of this study also revealed remarkable strength and resilience among parents. They often develop coping strategies and strong informal support networks to cope with the emotional stress associated with caring for a child with thalassemia (Fitriliani et al, 2020;Rehman et al, 2021). This confirms the importance of supporting existing social systems, found in the study by Chandra et al, (2022), which indicated the importance of community as a source of support.…”

Section: Discussionmentioning

confidence: 59%

“…Many parents are unaware that they are carriers of the thalassemia trait, which unwittingly increases the risk of having children with the same condition (Bala & Sarin, 2014). Second, limited access to quality health services, including genetic screening and counseling, makes it difficult to identify and effectively manage this condition (Rehman et al, 2021). Third, economic factors play a significant role, where high treatment costs and long-term management needs can be a burden to families (Chong et al, 2019;Mariani et al, 2020).…”

Section: Introductionmentioning

confidence: 99%

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Parental barriers in preventing recurrent thalassemia in children: A qualitative study

Mardhiyah,

Yosep,

Rakhmawati

et al. 2024

jika

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Thalassemia is a genetic blood disorder that can cause a heavy burden on families, especially parents whose children suffer from this condition. Parental involvement in preventing thalassemia in children is key, but there are many challenges to be faced. The aim of this study was to explore parental barriers in preventing recurrent thalassemia in children. This research uses a qualitative design with a phenomenological approach. Researchers conducted interviews and focus group discussions with 15 parents of children with thalassemia at a hospital in West Java Province. Data was collected and then analyzed using a phenomenological approach to identify main themes. The results of the study show that the barrier for parents in preventing recurrent thalassemia is the belief that my bloodline is clean, because there are no plans to have more children, so lazy to do screening, busy time, fear, expensive cost, and desire to have another child. This study found that there are various psychosocial and economic factors that influence parents' decisions in preventing thalassemia in their children. Increased education and financial support can help reduce the barriers parents face. More inclusive health policies and social support programs designed to target these factors could improve thalassemia prevention efforts.

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Section: Discussionmentioning

confidence: 59%

Section: Introductionmentioning

confidence: 99%

Parental barriers in preventing recurrent thalassemia in children: A qualitative study

Mardhiyah,

Yosep,

Rakhmawati

et al. 2024

jika

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“…The β-globin gene variant HBB:c.92+5G>C observed in present study was known to be the most common (f = 45.0%) in a study of South Punjab thalassemia patients 18 . In another study, HBB:c.92+5G>C variant with an allelic frequency of 19% and the HBB: c.47G>A(p.W16*) with a 4.1% frequency were reported in the KPK region, Pakistan 6 , 19 . The HBB: c.47G>A(p.W16*) variant has also been observed in Saudi Arabians with 7.40% frequency 20 .…”

Section: Discussionmentioning

confidence: 98%

“…Thalassemia is now considered a major health issue worldwide. In Pakistan, the inheritance rate of β-thalassemia has reached from 5.0 to 7.0% 6 . Defect in the Hb gene results in either the absence or inadequate synthesis of the alpha and β chain of Hb protein and the development of various types of thalassemia 17 .…”

Section: Discussionmentioning

confidence: 99%

“…Thalassemia has become a major health issue due to high carrier rates. Worldwide in more than 60 countries, the carrier rate of β-thalassemia has been estimated to be 150 million while in Pakistan, the β-thalassemia carrier rate has reached up to 7%, and annually more than 9000 children are born with homozygous β-thalassemia 6 . At present 1407 variants of Hb encoding genes (HBA, HBB, HBD, and HBG) have been reported in the Hbvar database ( https://globin.bx.psu.edu/hbvar/menu.html ).…”

Section: Introductionmentioning

confidence: 99%

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Mutational analysis of hemoglobin genes and functional characterization of detected variants, through in-silico analysis, in Pakistani beta-thalassemia major patients

Ejaz,

Abdullah,

Usman

et al. 2023

Sci Rep

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Thalassemia is one of the most prevalent genetic disorders worldwide. The present study aimed to explore the mutational spectrum of all hemoglobin (HB) encoding genes and to identify the potentially damaging and pathogenic variants in the beta (β)-thalassemia major patients and thalassemia minor carriers of Southern Punjab, Pakistan. A total of 49 β-thalassemia major patients and 49 carrier samples were screened for the identification of HBA1, HBA2, HBB, HBD, HBE1, HBG1 and HBG2 variants by NGS. PCR was performed for the amplification of HB encoding genes and the amplified product of 13 patients and 7 carrier samples were processed for the Sanger sequencing. Various bioinformatics tools and databases were employed to reveal the functional impact and pathogenicity potential of the observed variants. Results depicted a total of 20 variants of HB-related genes by NGS and 5 by Sanger sequencing in thalassemia patients. While 20 variants by NGS and 3 by Sanger were detected in carriers. Few known genetic variants of HB-encoding genes are being reported for the first time in Pakistani thalassemia patients and carriers. However, two novel HBB variants c.375A>C (p.P125P) and c.*61T>G and a novel variant of HBE1 (c.37A>T (p.T13S)) were also documented. Pathogenicity analysis predicted the pathogenic potential of HBB variants (c.47G>A (p.W16*), c.27-28insG (p. S10fs), and c.92+5G>C) for β thalassemia. The study of functional impact indicated that these HBB variants result in the premature termination of translation leading to the loss of functional β-globin protein. It is therefore suggested that the pathogenic HBB variants, identified during present study, can be employed for the diagnosis, carrier screening, and planning therapy of thalassemia.

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Global distribution of β-thalassemia mutations: An update

Rao,

Kumar Chandraker,

Misha Singh

et al. 2024

Gene

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Frequencies of Beta Thalassemia Mutations Show Different Pattern in Bannu Region than Other Parts of Pashtun Population in Khyber Pakhtunkhwa Province Pakistan

Cited by 3 publications

References 9 publications

Parental barriers in preventing recurrent thalassemia in children: A qualitative study

Parental barriers in preventing recurrent thalassemia in children: A qualitative study

Mutational analysis of hemoglobin genes and functional characterization of detected variants, through in-silico analysis, in Pakistani beta-thalassemia major patients

Global distribution of β-thalassemia mutations: An update

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