Frequency of Positive XmnI Gγ polymorphism and coinheritance of common alpha thalassemia mutations do not show statistically significant difference between thalassemia major and intermedia cases with homozygous IVSII-1 mutation

2010 ◽  
Vol 44 (2) ◽  
pp. 95-99 ◽  
Author(s):  
Maryam Neishabury ◽  
Azita Azarkeivan ◽  
Hossein Najmabadi
Keyword(s):  
Thalassemia Major ◽  
Alpha Thalassemia ◽  
Significant Difference

scholarly journals Investigation of JAK2V617F Mutation Prevalence in Patients with Beta Thalassemia Major

2019 ◽  
Author(s):  
Zari Tahannejad Asadi ◽  
Reza Yarahmadi ◽  
Najmaldin Saki ◽  
Mohammad Taha Jalali ◽  
Ali Amin Asnafi ◽  
...  
Keyword(s):  
Genetic Disorder ◽  
Thalassemia Major ◽  
Janus Kinase ◽  
Jak2v617f Mutation ◽  
Beta Thalassemia ◽  
Common Mutation ◽  
Signal Transducers ◽  
Significant Difference ◽  
Polymerase Chain ◽  
Low Prevalence

AbstractBackgroundBeta (β)–thalassemia major is a genetic disorder with anemia and an increased level of erythropoietin by Janus kinase/signal transducers and activators of transcription (JAK/STAT) signaling pathway. JAK plays an important role in cell signaling, and the common mutation in the JAK2 gene in myeloid disorders is called JAK2V617F.MethodsA total of 75 patients with beta (β)-thalassemia major patients, including 34 males (45%) and 41 females (55%), were enrolled in this study. The presence of the JAK2V617F mutation was assessed using the amplification-refractory mutation–polymerase chain reaction (ARMS-PCR) technique.ResultsAmong the 75 patients, 14 patients (19%) tested positive and 61 patients (81%) tested negative for JAK2V617F mutation. We observed no statistically significant difference in sex, age, genotype, and JAK2V617F mutation among patients (P> .05). However, a significant difference between blood-transfusion frequency and JAK2V617F mutation was observed (P <.05).ConclusionDue to the low prevalence of JAK2V617F mutation in thalassemia, using a larger population of the patients to investigate this mutation in ineffective erythropoiesis can be useful.

scholarly journals An investigation on the frequency of thoughts, readiness and suicide attempt in individuals with thalassemia

2021 ◽  
Vol 15 (6) ◽  
pp. 1847-1853
Author(s):  
Sahar Attar ◽  
Nour Mohammad Bakhshani ◽  
Qasem Miri Aliabad
Keyword(s):  
Suicidal Ideation ◽  
Suicide Attempts ◽  
Statistical Tests ◽  
Genetic Diseases ◽  
Thalassemia Major ◽  
Cross Sectional Study ◽  
World Health ◽  
Cross Sectional ◽  
Significant Difference ◽  
The World

Background and Aim: Thalassemia major is one of the most common chronic genetic diseases in the world and in Iran that can impose many adverse effects on the self and society. Psychologically, patients with thalassemia are under stress. According to the World Health Organization (WHO), suicide is one of the leading causes of death worldwide. It is important to identify the people who have the highest risk factors for suicide. The present research investigates the frequency of thoughts, readiness and suicide attempts in people with thalassemia. Methods: This was a cross-sectional study. Its sample was 150 patients with thalassemia in the age range of 10 to 46 years whom we selected through census by sampling at convenience. We gave to patients a standardized Beck Suicide Thought Assessment Questionnaire. We analyzed the research data using descriptive and inferential statistical tests. Results: From among 150 patients with thalassemia in this study, 57.3% of the respondents were male and 42.7% were female. The results showed that there was a negative and significant relationship between suicide thoughts and attempts and age (-0.234) (P <0.05). The mean prevalence of suicide in men (1.89) was significantly higher compared to women (0.79) (P <0.05). We did not observe significant difference in prevalence of suicide thoughts and attempts between married and single groups with a mean difference (0.69) (P <0.05) and, in different educational groups, no significant difference was reported (P> 0.05). Conclusion: The findings of this research showed that among patients with thalassemia, the prevalence of suicidal ideation has a significant percentage. Since suicidal ideation provides a platform for preparation and attempt to commit suicide, so by providing mental health services and regular screening, we can take an effective step to prevent this problem among patients with thalassemia. Keywords: Thalassemia, Suicidal ideation, Suicide.

scholarly journals The Effects of Patients' and Care-Givers' Knowledge, Attitude, & Practice (KAP) on Quality of Life Among Thalassemia Major Patients' in Damascus-Syrian Arab Republic

2018 ◽  
Vol 14 (12) ◽  
pp. 308
Author(s):  
Yaser Adnan Abo Jeesh ◽  
Magda El-hadi Ahmad Yousif ◽  
Moauya Al-Balal Al-Haboub
Keyword(s):  
Quality Of Life ◽  
Statistical Significance ◽  
Thalassemia Major ◽  
Cross Sectional ◽  
Attitudes And Practices ◽  
Teaching Guide ◽  
Care Givers ◽  
Significant Difference ◽  
Before And After

Background: Thalassemia is the most common autosomal abnormality in Syria. Its complications have an important effect on education; time off school; sport; difference from friends/ siblings; social interactions; and stigmatization. Knowledge of factors associated with quality of life in thalassemia patients is necessary for forming appropriate clinical programs, social support, and improving treatment outcomes. Purpose: The study was to assess the effects of Patients' and Care-givers' Knowledge, Attitude, & Practice (KAP) with Quality of Life among Thalassemia Major Patients' in Syria. Methods: Cross-sectional descriptive analytical design was conducted at the national thalassemia center in Damascus. WHOQOL-BREF and a questionnaire developed by the researcher were used to measure the participants’ knowledge, attitudes and practices of thalassemia. Results: Total of 238 thalassemia patients participated in the study. A statistical significance was found regarding improvement of skill and knowledge scores among caregivers and thalassemia patients before and after receiving the teaching guide from 12.52±1.77 to 14.07±1.01, t=11.447, p=0.000 and from 34.12±4.50 to 37.43±4.61, t=-8.58, p= .000 respectively. Stigmatization was significantly noticed among families caring for thalassemic patients. There were a significant differences in the mean score regarding nutritional status before and after teaching guide paired t test= 12.11, p= 0.000. A statistical significance was found in females regarding social domain p=0.04. However, mean scores for overall quality of life were better in females rather than males, but these mean scores were statistically insignificant p>0.05. A statistical significant difference in ferritin levels and patient’s age was found. Results also revealed that no statistical significant differences was observed between overall quality of life of the four domains in relation to the two treatment groups (subcutaneous vs oral) and age groups. Conclusion: Thalassemia is a socio-economic problem. The most efficient way to reduce risks of having affected patients is by increasing the knowledge through training of parents regarding the disease. Our findings highlighted that there was lack in patients’ knowledge and skills regarding the disease, but a remarkable improvement in both knowledge and performance was found after patients received the teaching guide, which lead to an increase in overall patient's quality of life.

scholarly journals Relationship between Vitamin B9 (Folic Acid), Vitamin B12 (Cobalamin), and Peripheral Neuropathy in Children with Beta-Thalassemia Major

2021 ◽  
Vol 9 (2) ◽  
Author(s):  
Uni Gamayani ◽  
Titin Junaidi ◽  
Nushrotul Lailiyya ◽  
Nur Suryawan ◽  
Nanan Sekarwana
Keyword(s):  
Folic Acid ◽  
Peripheral Neuropathy ◽  
Vitamin B12 ◽  
Thalassemia Major ◽  
Beta Thalassemia ◽  
Control Group ◽  
Case Group ◽  
Beta Thalassemia Major ◽  
Vitamin B9 ◽  
Significant Difference

Vitamin B9 (folic acid) and B12 (cobalamin) are essential vitamins that play roles in the process of hematopoiesis and maintaining the function of peripheral nerves. Therefore, these deficiencies may create a risk for peripheral neuropathy in beta-thalassemia major patients. The purpose of this study is to determine the relationship between vitamin B9 level, vitamin B12 level, and peripheral neuropathy in beta-thalassemia major children. It was an observational analytical study with a case-control design has been conducted at Dr. Hasan Sadikin General Hospital Bandung, Indonesia, in May–July 2019. There were 47 beta-thalassemia major children with peripheral neuropathy (case) and 41 healthy children (control). All subjects completed a general demographic questionnaire, underwent neurological examination, and were tested for vitamin B9 and B12 serum levels. Data were then analyzed using the unpaired t test to compare the vitamin levels between both groups and Spearman’s rank correlation test to investigate the correlation between vitamin levels and the number of affected nerves in the case group. Comparison of folic acid levels in the case group (21.52±6.22 ng/mL) and the control group (23.81±7.51 ng/mL) showed no significant difference (p=0.19). In contrast, cobalamin in the case group (288.57±168.61 ng/mL) and the control group (385.95±197.48 ng/mL) showed a significant difference (p=0.01). In addition, there was a moderate correlation (p=0.004, r=0.41) between folic acid level and the number of motoric nerves affected in the case group. In conclusion, cobalamin level correlates with peripheral neuropathy in beta-thalassemia major patients, and folic acid level correlates with the number of affected nerves, especially motoric nerves. HUBUNGAN ANTARA VITAMIN B9 (ASAM FOLAT), VITAMIN B12 (KOBALAMIN), DAN NEUROPATI PERIFER PADA ANAK DENGAN TALASEMIA BETA MAYORVitamin B9 (asam folat) dan B12 (kobalamin) merupakan vitamin esensial yang berperan dalam proses hematopoiesis dan menjaga fungsi saraf tepi. Defisiensi vitamin ini dapat menimbulkan risiko neuropati perifer pada pasien talasemia beta mayor. Tujuan penelitian ini mengetahui hubungan antara kadar vitamin B9, vitamin B12, dan neuropati perifer pada anak talasemia beta mayor. Metode penelitian ini adalah analitik observasional dengan rancangan studi kasus kontrol yang dilakukan di RSUP Dr. Hasan Sadikin Bandung, Indonesia pada Mei–Juli 2019. Terdapat 47 anak talasemia beta mayor dengan neuropati perifer (kelompok kasus) dan 41 anak sehat (kelompok kontrol). Seluruh subjek penelitian mengisi kuesioner demografi umum, menjalani pemeriksaan fisis neurologis, serta dilakukan tes kadar vitamin B9 dan B12 serum. Uji t test tidak berpasangan digunakan untuk membandingkan kadar vitamin pada kedua kelompok dan uji korelasi Spearman untuk membandingkan kadar kedua vitamin tersebut dengan jumlah saraf yang terkena pada kelompok kasus. Perbandingan kadar asam folat kelompok kasus (21,52±6,22 ng/mL) dan kelompok kontrol (23,81±7,51 ng/mL) menunjukkan perbedaan yang tidak bermakna (p=0,19), sedangkan perbandingan kadar kobalamin kelompok kasus (288,57±168,61 ng/mL) dan kelompok kontrol (385,95±197,48 ng/mL) menunjukkan perbedaan yang bermakna (p=0,01). Selain itu, terdapat korelasi sedang (p=0,004; r=0,41) antara kadar asam folat dam jumlah saraf motorik yang terkena pada kelompok kasus. Kesimpulan, kadar kobalamin berhubungan dengan neuropati perifer pada penderita talasemia beta mayor dan kadar asam folat berhubungan dengan jumlah saraf yang terkena, terutama saraf motorik.

Authors' Response: Prenatal Ultrasound Presentations in Late Pregnancies Affected With Alpha Thalassemia Major

2019 ◽  
Vol 22 (6) ◽  
pp. 605-605
Author(s):  
Elaine S Chan ◽  
Julie Lauzon ◽  
Lothar Resch ◽  
Bob Argiropoulos ◽  
Laura Schmitt ◽  
...  
Keyword(s):  
Thalassemia Major ◽  
Prenatal Ultrasound ◽  
Alpha Thalassemia

scholarly journals EARLY PREDICTORS OF RENAL DYSFUNCTION IN Β-THALASSEMIA MAJOR AND INTERMEDIA PATIENTS

2004 ◽  
Vol 6 (1) ◽  
pp. e2014057 ◽  
Author(s):  
Azza A.G. Tantawy ◽  
Nagham El Bablawy ◽  
Amira A. M Adly ◽  
Fatma S E Ebeid
Keyword(s):  
Renal Dysfunction ◽  
Serum Ferritin ◽  
Total Protein ◽  
Plasma Osmolality ◽  
Thalassemia Major ◽  
Total Serum ◽  
Protein Z ◽  
Early Predictors ◽  
Group I ◽  
Significant Difference

Background: Better survival of thalassemia patients allowed previously unrecognized renal complications to emerge. Objectives: Assess prevalence and early predictors of renal dysfunction in young β-thalassemia major (β-TM) and intermedia (β-TI) patients. Subjects: 66 β-TM (group I), 26 β-TI (group II) Egyptian patients and 40 healthy controls. Methods: History, examination and investigations that included kidney function tests, serum ferritin, serum bicarbonate, plasma osmolality and urinary total proteins, microalbuminuria (MAU), N-acetyl-β-D-glucosaminidase (NAG), retinol binding protein (RBP), α-1 microglobulin, bicarbonate, osmolality, Creatinine clearance (CrCl), % fractional excretion of bicarbonate (% FE-HCO3). Results: The most common renal abnormality was proteinuria (71%), followed by increased urinary level of RBP (69.4%), NAG (58.1%), α-1 microglobulin (54.8%) and microalbumin (29%) and also decreased urinary osmolality (58.1%). Although serum creatinine and BUN were not statistically different between thalassemia patients and control, CrCl were significantly lowered in thalassemia patients. Total serum protein and albumin was significant lower in splenectomized β-TM, whereas urinary total protein and MAU were significantly increased in all thalassemia patients. NAG, RBP and α-1 microglobulin were negatively correlated with CrCl and positively correlated with serum ferritin and urinary total protein. Z-score analysis for discrimination of patients with renal dysfunction proved superiority of urine total protein and RBP. Comparative statistics of different frequencies revealed significant difference between the urinary total protein and both MAU and % FE-HCO3. Conclusion: Asymptomatic renal dysfunctions are prevalent in young β-TM and β-TI patients that necessitate regular screening and urinary total protein and RBP may be cost-effective for early detection.

scholarly journals Molecular analysis of beta zero-thalassemia intermedia in Sardinia

Blood ◽  
1989 ◽  
Vol 74 (2) ◽  
pp. 823-827 ◽  
Author(s):  
R Galanello ◽  
E Dessi ◽  
MA Melis ◽  
M Addis ◽  
MA Sanna ◽  
...  
Keyword(s):  
Nonsense Mutation ◽  
Frameshift Mutation ◽  
Globin Gene ◽  
Thalassemia Major ◽  
Beta Thalassemia ◽  
Beta Globin ◽  
Thalassemia Intermedia ◽  
Mild Phenotype ◽  
Beta Globin Gene ◽  
Alpha Thalassemia

Abstract In this study we have carried out alpha- and beta-globin gene analysis and defined the beta-globin gene polymorphisms in a group of patients with thalassemia intermedia of Sardinian descent. A group of patients (109) with thalassemia major of the same origin served as control. Characterization of the beta-thalassemia mutation showed either a frameshift mutation at codon 6 or a codon 39 nonsense mutation. We found that homozygotes for the frameshift mutation at codon 6 or compound heterozygotes for this mutation and for the codon 39 nonsense mutation develop thalassemia intermedia more frequently than thalassemia major. The frameshift mutation at codon 6 was associated with haplotype IX that contains the C-T change at position -158 5′ to the G gamma globin gene implicated in high gamma chain production and thus the mild phenotype. In patients' homozygotes for codon 39 nonsense mutation, those with thalassemia intermedia more frequently had the two- gene deletion form of alpha-thalassemia, or functional loss of the alpha 2 gene as compared with those with thalassemia major. In a few siblings with thalassemia major and intermedia, the thalassemia intermedia syndrome correlated with the presence of the -alpha/-alpha genotype. No cause for the mild phenotype was detected in the majority of patients who had not inherited either haplotype IX or alpha- thalassemia.

scholarly journals No Association of Genetic Markers with Carotid Intimal Medial Thickness in β-Thalassemia Major Patients

2017 ◽  
Vol 07 (01) ◽  
pp. 019-022
Author(s):  
Mable Singh ◽  
Ravindra Kumar ◽  
Satyendra Tewari ◽  
Sarita Agarwal
Keyword(s):  
Iron Chelation ◽  
Total Mortality ◽  
Thalassemia Major ◽  
Estrogen Receptor Α ◽  
Matrix Gla Protein ◽  
Cardiac Complications ◽  
Intimal Medial Thickness ◽  
Cardiac Siderosis ◽  
Significant Difference ◽  
Pcr Rflp

AbstractRegular transfusion leads to cardiac siderosis resulting in cardiac complications that account for more than 71% of the total mortality in thalassemia patients. We aimed to study the variants of matrix metalloproteinase-9 (MMP9), matrix Gla protein (MGP), and estrogen receptor α(ERα), which might be contributing to atherosclerosis, leading to heart failure in thalassemia major. One hundred and five thalassemia patients on regular transfusion and iron chelation therapy were enrolled for the study. Carotid artery intimal medial thickness (CIMT) measurement was done to check for atherosclerosis. MMP9 (C1562T), MGP (T138C), and ERα gene (PvuII (rs2234693T > C) and XbaI (rs9340799A > G) polymorphism were analyzed using the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method. CIMT values were within the normal range (<0.90 mm) in all patients. There was no difference in mean CIMT values between males and females (0.56 ± 0.11 versus 0.56 ± 0.12, p = 0.928). There was no correlation of CIMT with age, body surface area, and body mass index as well as with serum ferritin levels. No statistically significant difference in frequency of MMP9, MGP, and ERα genotypes was seen in two dichotomized groups of CIMT (CIMT < 0.56 and CIMT ≥ 0.56). Variants of MMP9, MGP, and ERα have a reserved influence on cardiac disease pathogenesis, and the disease phenotype in thalassemia patients may be more strongly impacted by other factors.

Liver Status in a Cohort of Polytransfused B-Thalassemia Major (BTM) on Long Term Desferrioxamine (DfO) or Deferiprone (L1).

Blood ◽  
2006 ◽  
Vol 108 (11) ◽  
pp. 3732-3732 ◽  
Author(s):  
Mohsen Saleh Elalfy ◽  
Iman Abdin
Keyword(s):  
Thalassemia Major ◽  
Iron Chelators ◽  
Main Body ◽  
Liver Iron ◽  
Iron Storage ◽  
Liver Iron Content ◽  
Significant Difference ◽  
Group A ◽  
Insignificant Difference ◽  
The Difference

Abstract The liver is the main body site for iron storage. Iron chelators as DFo and L1 had problems of compliance and intolerance respectively. This prospective study enrolled 76 BTM patients aged from 9–33 years, mean of 14±4.4 to evaluate the effectiveness of both chelators judged by serum ferritin (sf) and liver iron content (LIC) using repeated liver biopsies. Fifty patients were on DFo 35 mg/kg/day 5 days per week and twenty-six were on L1 75 mg/kg/day on daily bases. Mean baseline sf values were 3678±1922 and 3573±1879 ng/ml while mean baseline LIC was 19.2±7.9 and 18.9±8.1 mg fe/g dw, while 12% and 14% showed evidence of liver fibrosis (score ≥ 3) respectively. Twenty-four months later; a decline in sf by 287±837 in Dfo (In Dfo compliant group [number = 30]who had received ≥ 75% of planned dose; sf dropped by 890±437 while increased in DFo non compliant by 621±513). While falling by 729±633 in L1 group. A decrease in LIC by 3.9±2.8 mg fe/g dw (−5.8±3.1 in Dfo compliant,+2.6±3.3 in Dfo non compliant) and falling by 2.2±3.4 mg fe/g dw in L1 group, the difference was statistically significant P< 0.05 between compliant and non compliant DFo and insignificant difference between Dfo and L1.The mean iron excretion: intake was 1.61,0.86 and 1.48 in Dfo compliant, non compliant and L1 respectively. A positive correlation was found between sf and LIC in both groups. Fibrosis was improved in Dfo compliant group better than L1 but no statistically significant difference was observed, while progressive fibrosis in 10% of Dfo non compliant group. All Dfo compliant group completed study, 18 out of 20 Dfo non compliant while six L1 patients discontinued the drug prematurely (3 severe gastrointestinal disturbances, 2 severe arthralgia and one repeated neutropenia). Conclusion: Both Dfo and L1 are effective iron chelators evident by drop in sf, LIC and improved fibrosis, however compliance and intolerance are still troublesome.

Two-Dimensional Speckle Strain for Evaluation of Left Ventricular Systolic Deformation in Children with Thalassemia Major.

Blood ◽  
2009 ◽  
Vol 114 (22) ◽  
pp. 4520-4520
Author(s):  
Osama Abd Rab-Rassol Tolba ◽  
Mohamed Ramadan El-Shanshory ◽  
Adel Abd El-Halum Hagag
Keyword(s):  
Early Detection ◽  
Conflicts Of Interest ◽  
Left Ventricular Systolic Dysfunction ◽  
Systolic Dysfunction ◽  
Mitral Annulus ◽  
Thalassemia Major ◽  
Left Ventricular ◽  
Systolic Strain ◽  
2D Strain ◽  
Significant Difference

Abstract Abstract 4520 Objective In β-thalassemia major, Identifying early myocardial insult is important since significant cardiac involvement may predate a decrease in left ventricular systolic functions. The aim of this study is to clarify the value of 2 D-strain (2DS) in early detection of segmental and global left ventricular systolic dysfunction in thalassemic children. Subjects and Methods This study included two age-matched groups:Group 1 (n=30) thalassemic children and Group 2 (n=10) healthy control children. They undergo conventional echo-Doppler measures of left ventricular (LV) systolic and diastolic functions. The pulsed tissue Doppler of lateral mitral annulus was recorded. Longitudinal 2D strain in 18 left ventricular segments using 2 dimensional (2DS) speckle-tracking imaging from apical 4, 2, and 3-chamber views, using a Vivid 7 ultrasound system. The images were analyzed using Echopac soft ware. Results There was no significant difference among thalassemic patients and controls in LV fraction shortening, peak systolic and diastolic tissue velocities of lateral mitral annulus. But by the 2 D strain study there were a significant multi-segmental affection of the LV mainly the posterior, anterior walls with predilection mainly to the apical segments, also there was a significant affection of the peak global LV systolic strain with a median value (-17.7 versus -20.75; P = 0.008.). There was no significant correlation between all segmental or global LV systolic strain and the serum ferretin. Conclusion 2DS is a sensitive and accurate tool for early detection of segmental and global cardiac insult in thalassemic children. Disclosures: No relevant conflicts of interest to declare.

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