Causes of Birth of More Than One Thalassemia Major Patient in Families in South-east of Iran: Lessons for Prevention Programs

Background: Beta-thalassemia major (TM) is one of the most common genetic diseases in Iran. Despite some efforts to reduce the incidence of TM, its incidence is still relatively high in some areas of the country. Methods: This cross-sectional study was performed on 635 families who had children with TM. The families that had more than one child with TM were enrolled. A demographic data questionnaire and a checklist containing queries about the reasons for the birth of the second or subsequent TM children were completed by each family. Finally, the data were analyzed using SPSS version 16. Results: Among the families that had more than one child with TM, 90, 23, and three families had two, three, and four children with the disease, respectively. Of the 261 patients studied, 125 (47.9%) and 136 (52.1%) had been born prior and after the implementation of the pre-marital screening program for beta-thalassemia in Iran, respectively. Also, in 29.4% of these families, parents were unaware of having thalassemia minor. In other cases, factors such as lack of knowledge about screening tests (14.0%), lack of financial compliance (13.2%), late referral for genetic tests (11.8%), and not undergoing screening tests despite recommendations (9.6%) were among the reasons declared by the families. In addition to these, religious and cultural reasons should also be mentioned as effective factors. Conclusions: This study showed that in only about 30% of the studied families, the parents were unaware of having thalassemia minor, and in other families, miscellaneous reasons were involved in the birth of the second or subsequent child with TM. In some cases, despite sufficient parental knowledge about the possibility of giving birth to a child with TM, no action was taken to prevent this event.

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A cross-sectional study of metabolic and endocrine complications in beta-thalassemia major

Annals of Saudi Medicine ◽

10.4103/0256-4947.51683 ◽

2008 ◽

Vol 28 (5) ◽

pp. 361 ◽

Cited By ~ 9

Author(s):

Farzad Najafipour ◽

Akbar Aliasgarzadeh ◽

Naser Aghamohamadzadeh ◽

Amir Bahrami ◽

Majid Mobasri ◽

...

Keyword(s):

Thalassemia Major ◽

Cross Sectional Study ◽

Beta Thalassemia ◽

Sectional Study ◽

Cross Sectional ◽

Beta Thalassemia Major ◽

Endocrine Complications

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

10.53350/pjmhs211561847 ◽

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.

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Serum IGF-1 and short stature in adolescents with beta-thalassemia major

Paediatrica Indonesiana ◽

10.14238/pi58.4.2018.151-8 ◽

2018 ◽

Vol 58 (4) ◽

pp. 151-8 ◽

Cited By ~ 1

Author(s):

Monalisa Elizabeth ◽

Eddy Fadlyana ◽

Lelani Reniarti ◽

Faisal Faisal ◽

Hadyana Sukandar ◽

...

Keyword(s):

Risk Factors ◽

Short Stature ◽

Family Income ◽

Thalassemia Major ◽

Cross Sectional Study ◽

Beta Thalassemia ◽

Growth Chart ◽

Chi Square ◽

Cross Sectional ◽

Beta Thalassemia Major

Background The prevalence of short stature in thalassemia patients ranges from 39.3 to 65%. The cause of short stature is complex and still up for debate. In Indonesia, data on the prevalence and risk factors of short stature in adolescents with thalassemia have been limited. Objective To assess for the prevalence and risk factors of short stature in adolescents with beta-thalassemia major. Methods This cross-sectional study was done from February to March 2017 at the Thalassemia Clinic at Dr. Hasan Sadikin General Hospital, Bandung. The baseline characteristics data of 80 adolescents with thalassemia aged 10-14 years were recorded. Short stature was assessed by height-for-age, (Z-score <-2SD) based on the 2007 WHO Reference Growth Chart. Mid-upper arm circumference was scored according to age and sex and serum IGF-1 was measured by ELISA method. Data analyses used were Chi-square, Fisher’s, and Mann-Whitney tests. Logistic regression model was used to further analyze for risk factors of short stature. Results Subjects were 40 males and 40 females, 81.2% of whom had short stature. The mean serum IGF-1 level was 32.2 (SD 26.38) ng/mL. The IGF-1 cut-off point by ROC curve was £38.51 ng/mL, with sensitivity of 64.4% and specificity of 86.7%. The risk factors of short stature were IGF-1 level £38.51 ng/mL (PR 40.66; 95%CI 4.37 to 377.58; P<0.001) and low family income (PR 19.76; 95%CI: 1.152 to 256.08; P=0.022). Conclusion IGF-1 level may be useful as a predictor of short stature in adolescent beta-thalassemia major patients.

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Endocrine complications of beta-thalassemia major patients—Cross-sectional study

International Journal of Blood Transfusion and Immunohematology ◽

10.5348/100051z02ak2020ak ◽

2020 ◽

Vol 10 ◽

pp. 1

Author(s):

Attanayaka Mudiyanse Dilhara Sewwandi Karunaratna ◽

Rasnayaka Mudiyanselage Mudiyanse

Keyword(s):

Thalassemia Major ◽

Cross Sectional Study ◽

Beta Thalassemia ◽

Sectional Study ◽

Cross Sectional ◽

Beta Thalassemia Major ◽

Endocrine Complications

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Renal damages in patients with major β-thalassemia

Journal of Nephropharmacology ◽

10.15171/npj.2020.02 ◽

2019 ◽

Vol 9 (1) ◽

pp. e02-e02

Author(s):

Malihe Najafpour ◽

Majid Farshdousti-Hagh ◽

Ali Akbar Movasagpoor-Akbari ◽

Abbas-Ali Hosein-Pour Feyzi ◽

Majid Malaki

Keyword(s):

Renal Function ◽

Renal Dysfunction ◽

Urine Analysis ◽

Thalassemia Major ◽

Cross Sectional Study ◽

Iron Chelators ◽

Beta Thalassemia ◽

Sectional Study ◽

Cross Sectional ◽

Healthy Control

Introduction: Numerous studies have shown the presence of renal dysfunction in patients with beta thalassemia major (βTM). According to iron overload and effects on renal, evaluation of renal function in βTM can cause better control of them. Objectives: In this study, we evaluated renal function in children and adults with βTM. Patients and Methods: Sixty patients (38 male and 22 female) with βTM, and 60 healthy control subjects (25 males and 35 females), were participated in this cross-sectional study. Biochemical and urine analysis were conducted to evaluate renal function. Additionally, patients were classified based on the administration of iron chelators including deferoxamine (Desferal), deferiprone (L1), deferasirox (Exjade) and combination therapy. Results: Renal dysfunctions such as hyperfiltration and proteinuria were common findings in patients compared with the normal group. Hypercalciuria was found only in patients groups receiving Exjade. Hyperfiltration was detected in all patients. Proteinuria was no related to drug administration. Conclusion: We found a high percentage of our βTM patients who had renal dysfunction as evidenced by proteinuria and hyperfiltration.

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Prevalence of Malocclusion in Patients with Thalassemia Major: A Cross-sectional Study

Iranian Journal of Orthodontics ◽

10.5812/ijo.117155 ◽

2021 ◽

Vol 15 (2) ◽

Author(s):

Parastoo Namdar ◽

Atena Shiva ◽

Tahura Etezadi ◽

Jamshid Yazdani Charati ◽

Hossein Karami ◽

...

Keyword(s):

Thalassemia Major ◽

Cross Sectional Study ◽

Iranian Population ◽

Beta Thalassemia ◽

Practical Training ◽

Sectional Study ◽

Cross Sectional ◽

Significant Difference ◽

Adolescents And Adults ◽

And Gender

Background: Iran lies in the world's thalassemia belt; accordingly, the beta‐thalassemia gene is carried by 4% of the Iranian population. Due to the dearth of research and literature available on the prevalence of malocclusions in the Iranian population with beta-thalassemia major, this study was conducted to determine the prevalence and severity of facial abnormalities among patients who were referred to Bu-Ali Sina Hospital, Sari, Iran. Methods: This descriptive cross-sectional study was conducted on 200 patients with thalassemia major who were referred to the care unit of Bu-Ali Sina teaching and therapeutic Hospital, Sari, Iran, in 2018. The patients were then visited by a trained dentist who had been given the necessary theoretical and practical training. Malocclusion was classified based on Angle's classification. Spacing, overcrowding, overjet, and overbite were measured, and the distances were recorded based on a checklist. Results: The prevalence of malocclusions obtained was 87.5%, which included malocclusions of Class I (34%), Class II (31%), and Classes III (22%) amongst patients. There was no significant relationship between the type of malocclusion and gender (P = 0.77). Moreover, no significant difference was observed among patients with thalassemia major and different classes of malocclusions in terms of age both in males (P = 0.49) and females (P = 0.58). Conclusions: Malocclusions are common among adolescents and adults with thalassemia, which is not associated with age or gender. Therefore, patients should be regularly visited and followed up by a dentist to manage and control their dental problems. In addition, effective and preventive measures, as well as health education should be seriously considered in these patients.

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Diagnostic Test Validity of MCV for Determination of Thalassaemia Carrier in Bangladesh

Journal of National Institute of Neurosciences Bangladesh ◽

10.3329/jninb.v2i2.34103 ◽

2017 ◽

Vol 2 (2) ◽

pp. 94-97

Author(s):

Nazmul Haque ◽

Narayan Chandra Saha ◽

Mohammad Ekhlasur Rahman ◽

Tahmina Ahmed

Keyword(s):

Diagnostic Test ◽

Test Validity ◽

Area Under The Curve ◽

Thalassemia Major ◽

Cross Sectional Study ◽

Beta Thalassemia ◽

College Hospital ◽

Cross Sectional ◽

Sensitivity Specificity

Background: Mean corpuscular volume (MCV) and mean corpuscular haemoglobin (MCH) of red blood cell is the useful diagnostic test which is performed during routine blood examination.Objective: The purpose of the present study was to measure the diagnostic test validity of MCV for the determination of thalassaemia carrier. Methodology: This analytic cross-sectional study was carried out in the Department of Pediatrics and Department of Medicine at MAG Osmani Medical College Hospital, Sylhet, Bangladesh from September 2007 to January 2009 for a period of one year and five months. Siblings and cousins of beta Thalassemia major and Hb- E -beta Thalassemia satisfying the selection criteria were enrolled. The detailed history and thorough physical examination were done meticulously. Five (5) mL blood was drawn from each case and control for determination of MCV and Hb-Electrophoresis. Result: Total 63 were enrolled as cases and total 65 were enrolled as controls. Sensitivity, specificity, positive and negative predictive value of MCV in determination of thalassemic carriers were 92%, 89.2%, 89.2% and 92% respectively. The area under the curve value was 0.094 (0.035 to 0.152). Conclusion: In conclusion the diagnostic test validity of MCH and MCH is high in determination of Thalassemic carrier. Journal of National Institute of Neurosciences Bangladesh, 2016;2(2): 94-97]

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Reproductive Hormone in Transfusion dependent βeta thalassemia major patients.

The Professional Medical Journal ◽

10.29309/tpmj/2019.26.12.3703 ◽

2019 ◽

Vol 26 (12) ◽

pp. 2179-2183

Author(s):

Sana Fatima Baloch ◽

Ikram Din Ujjan ◽

Sadia Shahmeer ◽

Nazia Hafeez ◽

Kiran Amir ◽

...

Keyword(s):

Luteinizing Hormone ◽

Thalassemia Major ◽

Cross Sectional Study ◽

Beta Thalassemia ◽

P Value ◽

Transfusion Rate ◽

Cross Sectional ◽

Endocrine Profile ◽

History Of ◽

Study Setting

Objective: To evaluate endocrine profile in transfusion dependent beta-thalassemia major patients. Study Design: Descriptive cross sectional study. Setting: Department of Pathology Liaquat University of Medical and Health Sciences, Jamshoro /Hyderabad and Thalassemia Centre Hyderabad. Period: 6 months from January 2018 to June 2018. Material & Methods: Cases already diagnosed with β- thalassemia major with recurrent blood transfusions (>20 transfusions or transfusion period over 2 years) both genders were included. All the patients went through routine laboratory checkups including Testosterone hormone, Luteinizing Hormone, and Follicle Stimulating Hormone. Data was recorded in preplanned proforma. Results: Overall 114 subjects were studied and their mean age was found to be 12.38+5.71 years. Females remained in majority as 56.1%. Mean of follicle stimulate hormone (FSH) and luteinizing hormone (LH) level were 4.60+4.88 and 5.39+8.39 respectively. Most of the patients, 35.1% had >300 of transfusion rate. Ferritin levels were significantly correlated with patients with history of transfusion rate >300; p-value 0.003. Testosterone level’s mean was considerably high among patients presented with transfusion rate of 201 to 300 and >300 transfusions; p-value 0.006. Likewise, mean of FSH and LH level was as well significantly high among the female subjects with history of transfusion rate of 201 to 300 and >300 transfusions; P-Values 0.019 and 0.026 respectively. Conclusion: Frequent hypogonadism was noted among thalassemia patients. Very low level average of FSH, LH and testosterone was seen.

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Pattern of hemoglobinopathies and thalassemia in Manipur, India

International Journal of Advances in Medicine ◽

10.18203/2349-3933.ijam20200661 ◽

2020 ◽

Vol 7 (3) ◽

pp. 474

Author(s):

Hidangmayum Dwijaraj Sharma ◽

Konsam Biona Devi ◽

Pravin Kumar ◽

Ksh Birendra Singh ◽

Diamond Princy J. ◽

...

Keyword(s):

Genetic Disorders ◽

Thalassemia Major ◽

Average Frequency ◽

Cross Sectional Study ◽

Beta Thalassemia ◽

Cross Sectional ◽

High Prevalence ◽

Abnormal Hemoglobin ◽

Hereditary Persistence ◽

Thalassemia Trait

Background: Hemoglobinopathies are the commonest genetic disorders worldwide. Thalassemia Major, Thalassemia Intermedia and Sickle Cell Disease are the major disorders that require lifelong management and are to be considered for prevention. In India, Beta-Thalassemia is prevalent across the country, with an average frequency of carriers being 3-4%.Methods: This is a cross sectional study conducted between June 2016 - May 2017 in the Department of Medicine, RIMS Imphal in 453 patients as a workup for anemia and clinically suspected cases of Hemoglobinopathy or beta thalassemia. Blood samples were collected and sent for Haemoglobin Electrophoresis using cellulose alkaline technique.Results: Among the 453 cases of the population surveyed, 35% showed the presence of abnormal hemoglobin. 16% were found to be beta thalassemia carrier, 11.69% HbE trait, 6.62% Homozygous HbE, 0.4% beta thalassemia and 0.7% had Hereditary persistence of HbF.Conclusions: High prevalence of Beta Thalassemia trait occurred more frequently than other Hemoglobinopathies. The study concludes that it is immensely important epidemiologically to explore the haemoglobin variants in Manipur so that the carriers can be detected for prevention of more serious disorder in the future generations.

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