scholarly journals A Case Report: Infertility Treatment of a Female with Beta-thalassemia Major

2021 ◽  
Vol 33 (2) ◽  
Keyword(s):  
Case Report ◽  
Medical Condition ◽  
Endometrial Thickness ◽  
Intrauterine Insemination ◽  
Embryo Implantation ◽  
Thalassemia Major ◽  
Beta Thalassemia ◽  
Blood Transfusions ◽  
Beta Globin ◽  
Beta Thalassemia Major

Beta-thalassemia is caused by a genetically mediated deletion of beta-globin chain of hemoglobin. It is an autosomal recessive disease, which causes a severe medical condition that requires longterm blood transfusions. An impaired hypothalamic-pituitary-ovarian axis mainly causes infertility in such patients. This case report presents a 26-year-old female, a known case of beta-thalassemia major, that received monthly blood transfusions before conceiving. The patient sought consultation for the treatment of primary infertility at Bahrain Defence Force Royal Medical Services (BDF-RMS) Hospital. The patient underwent two trials of intrauterine insemination (IUI). The goal was to build up endometrial thickness by gonadotrophins administration for embryo implantation. To conclude, IUI combined with gonadotrophins for ovarian stimulation has shown success. Keywords: Artificial Insemination, Beta-Thalassemia, Hypogonadism, Infertility, Pregnancy

scholarly journals A first case of hemoglobin Castilla [Beta 32(B14) Leu>Arg; HBB: c.98T>G] associated with [IVS-I-1 (G>A); HBB:c.92+1G>A] mutation found in a Syrian betathalassemia patient

2020 ◽  
Vol 10 (1) ◽  
Author(s):  
Ahmad Shoujaa ◽  
Yasser Mukhalalaty ◽  
Hossam Murad ◽  
Faizeh Al-Quobaili
Keyword(s):  
Molecular Analysis ◽  
Clinical Case ◽  
Globin Gene ◽  
Thalassemia Major ◽  
Beta Thalassemia ◽  
Blood Transfusions ◽  
Beta Globin ◽  
First Report ◽  
Beta Thalassemia Major ◽  
First Case

Beta thalassemia (β-thal) is one of the most common worldwide inherited hemoglobinopathies. Proper identification and diagnosis of hemoglobin (Hb) variants provide a major challenge. In this report, we describe a 1-year-old boy, presented with the diagnosis of β-TM (beta thalassemia major), has received regular blood transfusions. The molecular analysis revealed the presence of rare Hb Castilla [Beta 32(B14) Leu>Arg; HBB: c.98T>G] variant associated with β0 [IVS-I-1 (G>A); AG^GTTGGT- >AGATTGGT beta0] (HBB:c.92+1G>A) Mutation in beta-globin (β-globin) gene. To our knowledge, this is the first report of Hb Castilla [Beta 32(B14) Leu>Arg] in ExonII of β-globin gene which were found in Syrian male proband. However, we should investigate abnormal hemoglobins in patients with beta thalassemia to determine whether they have involvement with β-thalassemia mutations in the clinical case of the patients or not.

scholarly journals Left Atrial Strain Identifies Increased Atrial Ectopy in Patients with Beta-Thalassemia Major

Diagnostics ◽  
2020 ◽  
Vol 11 (1) ◽  
pp. 1
Author(s):  
Maria Vlachou ◽  
Vasileios Kamperidis ◽  
Efthymia Vlachaki ◽  
Georgios Tziatzios ◽  
Despoina Pantelidou ◽  
...  
Keyword(s):  
Blood Transfusion ◽  
Left Atrial ◽  
Systolic Pressure ◽  
Thalassemia Major ◽  
Beta Thalassemia ◽  
Tape Recording ◽  
Blood Transfusions ◽  
Systolic Strain ◽  
Peak Systolic Strain ◽  
Beta Thalassemia Major

Patients with beta-thalassemia major (β-ΤΜ) may develop cardiac arrhythmias through a multifactorial mechanism. The current study evaluated the association of cardiac structure and function on echocardiography with atrial ectopic burden on 24-hour tape recording in β-ΤΜ patients. This prospective study included consecutive β-ΤΜ patients. Demographic, laboratory, echocardiographic, cardiac magnetic resonance (CMR) T2* and 24-hour tape recording data were prospectively collected. The patients were classified according to the median value of premature atrial contractions (PACs) on 24-hour tape. In total, 50 β-TM patients (37.6 ± 9.1 years old, 50% male) were divided in 2 groups; PACs ≤ 24/day and > 24/day. Patients with PACs > 24/day were treated with blood transfusion for a longer period of time (39.0 ± 8.6 vs. 32.0 ± 8.9 years, p < 0.007), compared to their counterparts. Older age (OR: 1.121, 95% CI: 1.032–1.217, p = 0.007), longer duration of blood transfusion (OR:1.101, 95% CI:1.019–1.188, p = 0.014), larger LV end-diastolic diameter (OR: 4.522, 95% CI:1.009–20.280, p = 0.049), higher values of LA peak systolic strain (OR: 0.869, 95% CI: 0.783–0.964, p = 0.008), higher MV E/E′ average (OR: 1.407, 95% CI: 1.028–1.926, p = 0.033) and higher right ventricular systolic pressure (OR: 1.147, 95% CI: 1.039–1.266, p = 0.006) were univariably associated with PACs > 24/day. LA peak systolic strain remained significantly associated with PACs > 24/day after adjusting for the duration of blood transfusions or for CMR T2*. The multivariable model including blood transfusion duration and LA peak systolic strain was the most closely associated with PACs > 24/day. Receiver operating characteristic curve analysis identified a left atrial peak systolic strain of 31.5%, as the best cut-off value (83% sensitivity, 68% specificity) for prediction of PACs > 24/day. In β-TM patients, LA peak systolic strain was associated with the atrial arrhythmia burden independently to the duration of blood transfusions and CMR T2*.

scholarly journals COVID-19 in a Pregnant Patient with Beta-Thalassemia Major: A Case Report

2021 ◽  
Author(s):  
Yousef Hailan ◽  
Gamal Sayed ◽  
mohamed yassin
Keyword(s):  
Case Report ◽  
Pregnancy Outcome ◽  
Pregnant Patient ◽  
Threshold Value ◽  
Thalassemia Major ◽  
Beta Thalassemia ◽  
Infection Cycle ◽  
First Report ◽  
Beta Thalassemia Major ◽  
Gestational Week

We report a case of a 35-years-old Lebanese pregnant lady with a background of beta-thalassemia major who was diagnosed with COVID-19 infection (Cycle threshold value 18) during her 23rd gestational week. Unfortunately, the pregnancy outcome was unfavorable. To our knowledge, this is the first report of such a case

scholarly journals Thyroid Function in Chronically Transfused Children with Beta Thalassemia Major: A Cross-Sectional Hospital Based Study

2018 ◽  
Vol 2018 ◽  
pp. 1-5 ◽  
Author(s):  
Suraj Haridas Upadya ◽  
M. S. Rukmini ◽  
Sowmya Sundararajan ◽  
B. Shantharam Baliga ◽  
Nutan Kamath
Keyword(s):  
Thyroid Function ◽  
Serum Ferritin ◽  
Subclinical Hypothyroidism ◽  
Thyroid Dysfunction ◽  
Genetic Disorder ◽  
Thalassemia Major ◽  
Beta Thalassemia ◽  
P Value ◽  
Blood Transfusions ◽  
Beta Thalassemia Major

Background. Thalassemia is the most common genetic disorder worldwide. Use of iron chelators has improved survival but endocrine complications have become more frequent. The frequency of hypothyroidism in Beta Thalassemia Major (BTM) children ranges from 6 to 30 %. Thyroid dysfunction mainly occurs by gland infiltration, chronic tissue hypoxia, free radical injury, and organ siderosis. Objectives. (a) To evaluate the thyroid function status in chronically transfused children with BTM, in the first and second decade of life and (b) to study the influence of factors like duration and amount of blood transfusions, serum ferritin level, and iron chelation therapy on thyroid function. Methodology. BTM children, 3 years old and above, on regular blood transfusions with serum ferritin > 1500 mcg/l were included in the study. Thyroid function and ferritin assessment was done using ELISA kits. Autoimmune thyroiditis was ruled out by antithyroid peroxidase and antithyroglobulin antibody testing. Results. A study population of 83 children consisted of 49 boys (59%) and 34 girls (41%). 4.8% of the children had evidence of subclinical hypothyroidism. Among them two belonged to the first decade and the other two to the second decade of life. Mean TSH, FT4, and ferritin values among children with thyroid dysfunction were 6.38 ± 0.83 mIU/ml, 1.08 ± 0.45 ng/dl, and 3983.0±1698.30 ng/ml, respectively. The severity of thyroid dysfunction was statistically significantly associated with higher serum TSH values in children in the second decade of life with a p value = 0.001. No other significant correlation was found between oral chelation, amount and duration of blood transfusion, or serum ferritin levels. Conclusion. Subclinical hypothyroidism was the thyroid dysfunction observed in our study. Regular blood transfusions with adequate chelation may decrease incidence of thyroid dysfunction.

scholarly journals Study of pulmonary function tests in multitransfused children with beta thalassemia major: an observational study

2020 ◽  
Vol 7 (12) ◽  
pp. 2307
Author(s):  
Kavya Shivaswamy ◽  
Somashekhar Chikkanna ◽  
Jagdish Singh ◽  
Keerthana T. N. Gubbari
Keyword(s):  
Pulmonary Function ◽  
Pulmonary Function Tests ◽  
Thalassemia Major ◽  
Beta Thalassemia ◽  
Blood Transfusions ◽  
Beta Thalassemia Major ◽  
Function Tests ◽  
Asymptomatic Patients ◽  
Multiple Blood ◽  
Age And Sex

Background: Thalassemia is a hemoglobinopathy requiring multiple blood transfusions leading to iron deposition in various organs. Abnormalities in pulmonary function in thalassemia major patients have been found in various studies. Our aim was to study pulmonary function tests (PFT) in multitransfused children with beta thalassemia major.Methods: PFT was done in forty beta thalassemia major (TM) patients and forty normal healthy age and sex matched individuals and the results were analyzed.Results: Out of 40 thalassemia major patients, 20 (50%) had normal PFT and the rest 20 (50%) had an abnormal PFT out of which 18 (90%) had restrictive PFT and 2 (10%) had obstructive PFT.  Out of 40 controls, all 40 (100%) had normal PFT.Conclusions: Alteration of pulmonary function can be seen even in well-chelated TM patients. The respiratory system should be evaluated annually by PFTs even in asymptomatic patients to prevent pulmonary sequelae.

scholarly journals The power of three-dimensional printing technology in functional restoration of rare maxillomandibular deformity due to genetic disorder: a case report

2021 ◽  
Vol 15 (1) ◽  
Author(s):  
Daniel Oren ◽  
Amiel A. Dror ◽  
Tania Bramnik ◽  
Eyal Sela ◽  
Igal Granot ◽  
...  
Keyword(s):  
Genetic Disorder ◽  
Three Dimensional ◽  
Thalassemia Major ◽  
Functional Restoration ◽  
Beta Thalassemia ◽  
Blood Transfusions ◽  
Printing Technology ◽  
Three Dimensional Printing ◽  
Beta Thalassemia Major ◽  
Dimensional Printing

Abstract Background Thalassemia is an inherited autosomal recessive blood disorder causing abnormal formation of hemoglobin, known as a syndrome of anemia with microcytic erythrocytes. It is the most common genetic disorder worldwide, with a high prevalence among individuals of Mediterranean descent. The state of homozygosity of the beta-globin mutated gene is known as beta-thalassemia major, and these patients require regular blood transfusions and iron chelation therapy for survival. The rapid loss of red blood cells among affected individuals activates compensatory mechanisms of excessive medullary and extramedullary hematopoiesis, leading to severe skeletal bone deformity. Case presentation We present the case of a 39-year-old Bedouin male, diagnosed with beta-thalassemia major at infancy, with diagnosed homozygosity for the intervening sequence 2-1 (guanine > adenine) mutation. Since early infancy, he started receiving blood transfusions with a gradual increase in treatment frequency through adulthood due to the severe clinical progression of the disease. He was referred to the oral and maxillofacial surgery department at Galilee Medical Center to evaluate his facial deformity in the upper jaw and treat his severe periodontal disease. The patient presented maxillary overgrowth, and severe dental deformity resulted in progressive disfigurement and difficulty chewing, swallowing, and speaking. To address the challenge of surgical treatment, we utilized the advantage of three-dimensional planning and printing technology to simulate the optimal result. Resection of maxillary bone overgrowth and insertion of custom-made subperiosteal implants were followed by rehabilitation of both jaws to the patients' satisfaction at 3-year follow-up. Conclusions The ongoing implementation of state-of-the-art technologies such as virtual reality and three-dimensional printing has become a prominent component in surgical toolsets. Comprehensive case simulation and accurate planning before surgery will improve surgical results and patient satisfaction. This approach is highly advocated when approaching a case of rare maxillofacial deformity associated with either genetic or orphan diseases.

scholarly journals AB131. Case report: a couple having a child affected with beta thalassemia major and another child with hydrops fetalis

2017 ◽  
Vol 5 (S2) ◽  
pp. AB131-AB131
Author(s):  
Thi Tuyet Nhung Ngo ◽  
Thi Thanh Ha Ly ◽  
Diem Ngoc Ngo ◽  
Thi Phuong Mai Nguyen ◽  
Thuy Lan An ◽  
...  
Keyword(s):  
Case Report ◽  
Thalassemia Major ◽  
Hydrops Fetalis ◽  
Beta Thalassemia ◽  
Beta Thalassemia Major

COMPLICATIONS OF IRON OVERLOAD IN BETA THALASSEMIA- AN AUTOPSY CASE REPORT

2021 ◽  
pp. 14-16
Author(s):  
Meenakshi Balasubramanian ◽  
Niyati Sangoi
Keyword(s):  
Case Report ◽  
Thalassemia Major ◽  
Beta Thalassemia ◽  
Autopsy Case ◽  
Asian Countries ◽  
Beta Thalassemia Major ◽  
Common Causes ◽  
High Incidence ◽  
Hereditary Disorders ◽  
Common Group

Beta thalassemias are a common group of hereditary disorders that have a high incidence in south Asian countries like India. The following article presents an autopsy case report of a patient with beta thalassemia major discussing the various clinicopathological features, gross and histopathological ndings. Common causes of death in patients with beta thalassemia major, various screening modalities for early detection of carriers, diagnosis and treatment have also been discussed, along with the review of literature.

Investigation of beta globin gene mutations in Syrian refugee patients with thalassemia major

2019 ◽  
Vol 44 (2) ◽  
pp. 126-129
Author(s):  
Hatice Çevirici ◽  
Can Acıpayam ◽  
Ebru Dündar Yenilmez ◽  
Fatma Burcu Belen ◽  
Esra Pekpak ◽  
...  
Keyword(s):  
Sequence Analysis ◽  
Globin Gene ◽  
Gene Mutations ◽  
Thalassemia Major ◽  
Beta Thalassemia ◽  
Amplification Refractory Mutation System ◽  
Beta Globin ◽  
Beta Globin Gene ◽  
Beta Thalassemia Major ◽  
Mutation System

Abstract Objectives This study, detection of beta globin gene mutations in thalassemia major patients who migrated from Syria to Kahramanmaraş region were planned. Materials and methods The study included 35 Syrian national beta thalassemia major patients. Beta globin gene mutations were detected by ARMS (Amplification Refractory Mutation System) method, RFLP (Restriction Fragment Length Polymorphism) method and DNA sequence analysis. Codon 15, codon 9/10, codon 5 and codon 8 mutations, which we could not detect with other methods in our study, were detected by sequence analysis. Results In beta thalassemia major patients, 16 types of mutations were detected, the most common being IVS-I-110 (n=8). Other mutations are according to frequency order IVS-II-745 (n=3), codon 44 (n=3), codon 15 (n=3), IVS-I-110/IVS-I-1 (n=3), codon 5 (n=2), IVS-I-1 (n=2), codon 8/IVS-II-1 (n=2), codon 44/codon 15 (n=2), IVS-II-1 (n=1), codon 39 (n=1), IVS-I-6/codon 5 (n=1), codon 9/10 (n=1), IVS-I-110/codon 39 (n=1), IVS-I-5/IVS-II-1 (n=1), codon 39/IVS-II-745 (n=1). Conclusions According to the results of our study beta-thalassemia mutations in Syrian immigrant groups show heterogeneity and mutation types of mutation map is similar to Turkey. The conclusion is to prevent families to have a second patient child by genetic counseling.

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