Clinical Complications of Beta-Thalassemia Major

Shawkat, Ali Jalal; Jwaid, Ahmed Hamed

doi:10.31351/vol28iss2pp1-8

Cited by 4 publications

(1 citation statement)

References 43 publications

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“…10 Multi-blood transfusions in thalassemiamajor patients cause iron deposition in the parathyroid gland that results in decreased parathyroid hormone (PTH), which in turn causes hypoparathyroidism. 11 Patients with thalassemia have a high risk of getting diabetes mellitus (DM). Iron accumulation in pancreatic beta cells damages these cells, and, thus, insulin resistance (IR) is moderated.…”

Section: Introductionmentioning

confidence: 99%

Spectrum of HBB gene variants and major endocrine complications in thalassemia patients of Pakistan

Muhammad Bilal Ghafoor,

Ikram Din Ujjan,

Ali Muhammad Waryah

et al. 2023

J Pak Med Assoc

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Objectives: 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 >1000µg/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-26 (G>A) 1(1.1%). The association between haemoglobin subunit beta gene variants with endocrine complications was statistically non-significant (p>0.05). Conclusion: IVSI-5 (G>C) was found to be the most frequent haemoglobin subunit beta gene variant among beta-thalassemia major patients. Key Words: Beta-thalassemia major, Endocrine complications, Growth retardation, Hypothyroidism, Parathyroidism, Diabetes mellitus.

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Section: Introductionmentioning

confidence: 99%

Spectrum of HBB gene variants and major endocrine complications in thalassemia patients of Pakistan

Muhammad Bilal Ghafoor,

Ikram Din Ujjan,

Ali Muhammad Waryah

et al. 2023

J Pak Med Assoc

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Factors Contributing to Anxiety in Adolescents Surviving Thalassemia Major in Indonesia

Mediani,

Fuadah

2024

Preprint

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Background Thalassemia major leads to severe anaemia, necessitating lifelong blood transfusions. Inconsistencies in blood transfusions and iron chelation therapy result in physical changes that can cause psychological issues, with anxiety being the most prominent. This study aimed to examine the factors influencing anxiety levels among adolescent thalassemia major survivors. Methods The research utilized a quantitative approach with a correlational analytic design and cross-sectional method. It included a population of 122 adolescent survivors, all of whom were included using a total sampling technique. Data analysis involved univariate analysis by frequency distribution, bivariate analysis using the chi-square test, and multivariate analysis with logistic regression. Results The study findings revealed that 70.5% of adolescents experienced mild anxiety. Significant correlations were found between body image (p < 0.001), self-esteem, and coping mechanisms with anxiety levels, while social support was not significantly related. Body image emerged as the most influential factor, with poor body image increasing the likelihood of severe anxiety by 11.6 times. Conclusions Adolescents with Thalassemia major in West Java primarily exhibit mild anxiety. These findings highlight the necessity for comprehensive psychological support that addresses body image concerns and boosts self-esteem and coping skills to enhance the mental health of adolescent thalassemia major survivors.

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Relationship of TNFα-238 G/A (rs 361525) genotypes with TNFα gene expression in liver and pancreas disorders in sample of beta thalassemia major adult Iraqi patients

Luaibi,

Mohammed

2024

HAB

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BACKGROUND: Tumor necrosis factor-α (TNFα) is a crucial physiologic regulator of immune responses, and several disorders have been associated with its dysregulation. OBJECTIVE: This study aimed to understand TNFα gene expression in adult patients with liver and pancreas disorders and examine the impact of TNFα-238 genotypes on this population. METHODS: At the Ibn Al-Baladi Hospital in Baghdad, blood samples were collected from forty patients who were diagnosed with beta thalassemia together with pancreatic disease, forty patients who were diagnosed with thalassemia together with liver disorder, and forty patients who were diagnosed with thalassemia without pancreas or liver disorder. For the purpose of establishing a control group, forty samples were collected from persons who were of the same age and gender and seemed to be in good health. All of these individuals were deemed to be older than 18 years old. Through the utilization of real-time polymerase chain reaction (PCR), the level of TNF-α gene expression was investigated and assessed. The T-ARMS-PCR method was performed for detection and genotyping of TNFα-238 in thalassemia patients and healthy control samples. RESULTS: The result showed that TNF α gene expression assessment showed that group B (thalassemia patients with liver disorder) had higher folding than other groups while the lowest gene expression was in group D (as control group). Furthermore, the relationship between TNFα gene expressions folding with TNFα-238 genotypes in beta thalassemia major patients, discovered a considerable increase at GA genotype patients in TNFα gene expression level, followed by AA genotype compared to the GG genotype. Furthermore, the results of the current study showed an association between the presence of the mutant (A) allele whether heterozygous (GA) and homozygous (AA) with the TNF-α gene expression in thalassemia patients with liver and pancreatic disorders. CONCLUSION: Based on the results, it can be concluded that there is a relationship between the presence of the mutant (A) allele, whether heterozygous (GA) or homozygous (AA) of TNF-α 238, and TNF-α gene expression in liver and pancreatic diseases as well as in patients with thalassemia.

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Clinical Complications of Beta-Thalassemia Major

Cited by 4 publications

References 43 publications

Spectrum of HBB gene variants and major endocrine complications in thalassemia patients of Pakistan

Spectrum of HBB gene variants and major endocrine complications in thalassemia patients of Pakistan

Factors Contributing to Anxiety in Adolescents Surviving Thalassemia Major in Indonesia

Relationship of TNFα-238 G/A (rs 361525) genotypes with TNFα gene expression in liver and pancreas disorders in sample of beta thalassemia major adult Iraqi patients

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