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Beta globin gene cluster on chromosome 11 showing all five beta globin genes Small nucleotide deletions, insertions or point mutations in the β-globin gene are the main cause
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Context 1
... β-globin locus on chromosome 11 contains four genes i.e. ε (epsilon), γ (gamma), δ (delta) and β (beta) whose onset of expression is in the same sequence too (Figure 1). The ε-globin gene is expressed in early stages of embryonic development whereas β-globin gene is expressed at the adult stage. ...
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Citations
... The Saudi Arabians were the only people to have codon 39, codon 6, Cap +1 and IVS-l-5, whereas the people of Lebanon had codon 39 mutation. 26 The major endocrine complications studied in Sri Lanka were hypogonadism, followed by growth retardation, hypothyroidism, DM and hypoparathyroidism. 27 The current study showed growth retardation, hypogonadism, hypothyroidism, hypoparathyroidism, DM and IGT in thalassemia-major patients. ...
Objective:
To determine the molecular characterisation of beta-thalassemia major patients, pattern of major endocrine complications and its association with haemoglobin subunit beta gene variants.
Method:
The cross-sectional study was conducted from November 2021 to November 2022 after approval from the ethics review committee of Liaquat University of Medical and Health Sciences, Jamshoro, Pakistan, and comprised of 88 patients with beta thalassemia major aged >8 years and having serum ferritin level >1000 μg/L. The subjects were analysed for haemoglobin subunit beta gene variants and major endocrine complications, like growth retardation, hypogonadism, hypothyroidism, hypoparathyroidism and diabetic abnormalities using an automatic chemistry analyser, fully automatic chemiluminescence immunoassay analyser, enzyme-linked immunosorbent assay and real-time polymerase chain reaction. Data was analysed using SPSS 25.
Results:
Of the 88 subjects, 40(45.4%) were girls and 48(54.5%) were boys. The overall mean age was 12±2.81 years. Of the total, 55(62.5%) had growth retardation, 41(46.6%) were cases of hypogonadism, 16(18.1%) hypothyroidism, 5(5.7%) hypoparathyroidism, 3(3.4%) diabetes mellitus and 8 (9.1%) had impaired glucose tolerance. Also, 65 (73.9%) patients confronted at least one endocrine complication. Endocrine complications were strongly associated with serum ferritin levels (p=0.000). The most common haemoglobin subunit beta gene variant identified was IVSI-5 (G>C) in 36 (40.9%), and the least identified variant was cluster of differenctiation-CD26(G>A) 1(1.1%). The association between haemoglobin subunit beta gene variants with endocrine complications was statistically non-significant (p>0.05).
Conclusions:
IVSI-5 (G>C) was found to be the most frequent haemoglobin subunit beta gene variant among beta- thalassemia major patients.
... Repeated cousin marriages have been reported as the major cause of thalassemia disease (Aqueel & Anjum, 2019). In many countries including Iran, India, Bangladesh and Pakistan where traditional believes and practices are dominant over decision making about marriages, genetic counseling, premarital and prenatal screenings, it is difficult to create awareness among families and alarm them about the consequences of consanguinity (Battu, Mallipatna, Elackatt, Schouten, & Webers, 2018). ...
The study aimed to explore social and cultural menaces of beta-thalassemia major by transcribing and analyzing the narratives and elucidations of parents of thalassemic children by using thematic analysis. Data were collected from parents at two centers of blood transfusion by mode of interview method with 12 participants. The coded accounts were thematically explained by highlighting the similarities of opinions. It has been explored that participants had a gratified attitude towards these two centers because of provision of blood and medications for their children. The extrusive categories include self-blaming, lack of education and empowerment, patriarchy, consanguinity and cultural mythologies and false religious explanations and beliefs.
