Thalassemia in Pakistan

Khaliq, Sehar

doi:10.1080/03630269.2022.2059670

Cited by 17 publications

(9 citation statements)

References 7 publications

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“…This 3.4 kb deletion β 0 -thalassemia has been frequently described among Southeast Asian and Chinese patients. It has rarely been encountered on population of India, Pakistan and Bangladesh ( Nadkarni et al, 2019 ; Khaliq, 2022 ; Chowdhury, Sultana & Das, 2022 ). This 3,488 bp deletion β -thalassemia allele removes DNA between positions −125 to +78 of the β -globin gene, eliminating the CACCC, CCAAT, and TATA elements in the β -globin gene promoter.…”

Section: Discussionmentioning

confidence: 99%

Molecular basis of a high Hb A₂/Hb Fβ-thalassemia trait: a retrospective analysis, genotype-phenotype interaction, diagnostic implication, and identification of a novel interaction withα-globin gene triplication

Soontornpanawet

Singha

Srivorakun

et al. 2023

PeerJ

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Background β0-thalassemia deletion removing 5´β-globin promoter usually presents phenotype with high hemoglobin (Hb) A2 and Hb F levels. We report the molecular characteristics and phenotype-genotype correlation in a large cohort of the β0-thalassemia with 3.4 kb deletion. Methods A total of 148 subjects, including 127 heterozygotes, 20 Hb E-β-thalassemia patients, and a double heterozygote with α-globin gene triplication, were recruited. Hb and DNA analysis were performed to identify thalassemia mutations and four high Hb F single nucleotide polymorphisms (SNPs) including four base pair deletion (-AGCA) at Aγ-globin promoter, rs5006884 on OR51B6 gene, −158 Gγ-XmnI, BCL11A binding motifs (TGGTCA) between 3´Aγ-globin gene and 5´δ-globin gene. Results It was found that heterozygous β0-thalassemia and Hb E-β0-thalassemia with 3.4 kb deletion had significantly higher Hb, hematocrit, mean corpuscular volume, mean corpuscular hemoglobin and Hb F values as compared with those with other mutations. Co-inheritance of heterozygous β0-thalassemia with 3.4 kb deletion and α-thalassemia was associated with even higher MCV and MCH values. The Hb E-β0-thalassemia patients carried a non-transfusion-dependent thalassemia phenotype with an average Hb of around 10 g/dL without blood transfusion. A hitherto undescribed double heterozygous β0-thalassemia with 3.4 kb deletion and α-globin gene triplication presented as a plain β-thalassemia trait. Most of the subjects had wild-type sequences for the four high Hb F SNPs examined. No significant difference in Hb F was observed between those of subjects with and without these SNPs. Removal of the 5´β-globin promoter may likely be responsible for this unusual phenotype. Conclusions The results indicate that β0-thalassemia with 3.4 kb deletion is a mild β-thalassemia allele. This information should be provided at genetic counseling and prenatal thalassemia diagnosis.

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Section: Discussionmentioning

confidence: 99%

Molecular basis of a high Hb A₂/Hb Fβ-thalassemia trait: a retrospective analysis, genotype-phenotype interaction, diagnostic implication, and identification of a novel interaction withα-globin gene triplication

Soontornpanawet

Singha

Srivorakun

et al. 2023

PeerJ

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“…This makes it di cult to make progress in nding new treatments and improving the quality of life for Thalassemia patients. 19 Further the policy gap in addressing Thalassemia in Pakistan needs to be lled in order to effectively address this issue and provide support for those affected by the disease. 20 This would require a concerted effort from the government, healthcare providers, and the general public.…”

Section: Discussionmentioning

confidence: 99%

Uncovering the realities of ß-Thalassemia major women through qualitative descriptive study- Policy matters

Jabeen,

Ansari,

Durrani

et al. 2023

Preprint

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Introduction: ß-Thalassemia is a genetic disorder that affects physical and emotional well-being and has a significant monetary impact on families and the healthcare system. Social support is believed to play a vital role in improving the quality of life for these patients, particularly in terms of mental wellbeing. This study aims to understand the universal psychosocial burdens faced by young women suffering from ß-thalassemia major and their perceptions and role in society.Methods: The study design was qualitative descriptive, using purposive sampling. In-depth interviews were conducted with six young women diagnosed with ß-thalassemia major, aged between 16 and 40 years, with varying levels of education. The data was analyzed using NVIVO-12, through coding, categorization, theme development, and mind mapping.Findings: This study aimed to understand the psychosocial facilitators and barriers to the wellbeing of female ß-thalassemia patients. Through inductive content analysis. Positive Factors which enhance quality of lives were education, family support, quality of life, and contributions to society however negative influencer factors were depression social segregation/isolation, lack of insurance services, difficulties in school, employment, and social relationships.Conclusion: This study highlights the psychosocial facilitators and barriers to the wellbeing of young female ß-thalassemia patients in Pakistan. It highlights the need for further research to understand their needs and the necessary support from society.

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“…Many lower socioeconomic strata cannot afford treatment due to large families. There is no national thalassemia preventive program in place, and premarital screening laws have been enacted in Sindh, KPK, and Baluchistan, but implementation is still challenging at the provincial level (Khaliq, 2022).…”

Section: Review Of Literaturementioning

confidence: 99%

A Study of Knowledge, Attitude, and Practice about Thalassemia among the People of Gilgit and Azad Kashmir, Pakistan

Iqbal,

Sial

2023

GJSSH

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Thalassemia, an inherited blood ailment with a 5 to 8% frequency in the beta-thalassemia gene, is a significant health issue in Pakistan, regardless of ethnicity. A study was conducted in Gilgat, Azad Jammu Kashmir, Pakistan, to assess the general public's awareness of the disease. A systematic questionnaire was created, asking 24 questions on awareness. Only 178 participants answered the questionnaire, indicating low knowledge. Those who correctly answered 13-18 questions had average knowledge, while those who answered more than 18 questions had strong knowledge. Of the 178 participants who had heard the term, 5.4% had a "good" level of awareness, 20.6% had average understanding, and 74% had poor understanding. The study revealed that the general population of Gilgit and Azad Jammu Kashmir, Pakistan, had little understanding of Thalassemia.

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Thalassemia in Pakistan

Cited by 17 publications

References 7 publications

Molecular basis of a high Hb A₂/Hb Fβ-thalassemia trait: a retrospective analysis, genotype-phenotype interaction, diagnostic implication, and identification of a novel interaction withα-globin gene triplication

Molecular basis of a high Hb A₂/Hb Fβ-thalassemia trait: a retrospective analysis, genotype-phenotype interaction, diagnostic implication, and identification of a novel interaction withα-globin gene triplication

Uncovering the realities of ß-Thalassemia major women through qualitative descriptive study- Policy matters

A Study of Knowledge, Attitude, and Practice about Thalassemia among the People of Gilgit and Azad Kashmir, Pakistan

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Thalassemia in Pakistan

Cited by 17 publications

References 7 publications

Molecular basis of a high Hb A2/Hb Fβ-thalassemia trait: a retrospective analysis, genotype-phenotype interaction, diagnostic implication, and identification of a novel interaction withα-globin gene triplication

Molecular basis of a high Hb A2/Hb Fβ-thalassemia trait: a retrospective analysis, genotype-phenotype interaction, diagnostic implication, and identification of a novel interaction withα-globin gene triplication

Uncovering the realities of ß-Thalassemia major women through qualitative descriptive study- Policy matters

A Study of Knowledge, Attitude, and Practice about Thalassemia among the People of Gilgit and Azad Kashmir, Pakistan

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Molecular basis of a high Hb A₂/Hb Fβ-thalassemia trait: a retrospective analysis, genotype-phenotype interaction, diagnostic implication, and identification of a novel interaction withα-globin gene triplication

Molecular basis of a high Hb A₂/Hb Fβ-thalassemia trait: a retrospective analysis, genotype-phenotype interaction, diagnostic implication, and identification of a novel interaction withα-globin gene triplication