scholarly journals Clinical Profile of Thalassemia Syndrome in Children of Northern Bangladesh

2019 ◽  
Vol 31 (2) ◽  
pp. 6-11
Author(s):  
Md Rustam Ali ◽  
Md Iqbal Bari ◽  
Md Sanaul Haque Mia ◽  
Md Khalilur Rahman ◽  
Md Farid Hossain ◽  
...  
Keyword(s):  
Wide Spectrum ◽  
Standard Procedure ◽  
Iron Chelation ◽  
Hemoglobin Concentration ◽  
Folic Acid Supplementation ◽  
Beta Thalassemia ◽  
Low Grade ◽  
Thalassemia Patient ◽  
Racial Background ◽  
Hb E

Background: Thalassemia is a common hematological disorder in our country having wide spectrum of clinical presentation. The frequency and severity of the several types of thalassemia depend on the racial background of the population. Hb-E Beta thalassemia is prevalent in our country. Objective: To see the clinical features of different types of Thalassemia in northern area of Bangladesh. Methods: Hundred cases were selected from Thalassemia patient admitted in department of pediatrics, on May 2012 to October 2012. A prescribed questionnaire was used to record the information. The methods were explained to the patients and consent was taken. Necessary physical examination was performed and investigations were done. The data was analyzed by standard procedure. Results: Out of hundred (100) cases, most (61%) were Hb-E beta Thalassemia, less common (1%) was Hb-E disease, and 1 % case was Hb-E trait. Majority (64%) manifested clinically under one year of age. 54% were male and 46% were female. The major presenting symptom was progressive pallor in 70% cases. Others presenting complaints were low grade fever (40%). Hemoglobin concentration at the time of diagnosis was below 5 gm/dl in 53.33% patients. In hemoglobin electrophoresis it was Hb-E ranged from 54.64 ± 13.02%, Hb-F 34.84±13.73%, Hb-A 23.32± 18.15% and Hb-A2 3.5± 70%. Radiological findings revealed gross bony changes occur in long standing cases. Enlarged cardiac shadow was found in those cases having severe anemia with heart failure. Conclusion: In countries with a high incidence of thalassemia, it is vitally important to offer prospective genetic counseling and to warn carriers about the risks of intramarriage. Nutritional and folic acid supplementation with regular blood transfusion along with iron chelation therapy is essential to improve the prognosis. TAJ 2018; 31(2): 6-11

scholarly journals Genetic Mutation of Hb E/beta Thalassemia Patient in Bangladesh and Its Relation With Clinical Severity

2021 ◽  
Author(s):  
Nishat Mahzabin ◽  
Md. Abdul Aziz ◽  
Md. Akhlak-Ul Islam ◽  
Nusrat Jahan ◽  
Md. Kamrul Hasan Sajib ◽  
...  
Keyword(s):  
High Performance ◽  
Mutational Analysis ◽  
Severe Disease ◽  
Genetic Mutation ◽  
Clinical Severity ◽  
Beta Thalassemia ◽  
Thalassemia Patient ◽  
Cross Sectional ◽  
Hemoglobin E ◽  
Hb E

Abstract Background: Hemoglobin E/β-thalassemia is a common inherited hemoglobin disorder among South Asian countries. The phenotypically diverse presentation of the disease is often attributed to coinheritance of β-globin (HBB) gene mutations. The current study described the phenotype and genetic basis of Hb E/β-thalassemia patients and assessed its relation with clinical severity.Methods: A total of 32 patients were included in this cross-sectional study. Cases were confirmed by using capillary hemoglobin electrophoresis or high-performance liquid chromatography. Those with positive findings were further analyzed with clinical information and ancestral data either from the interview or medical records. Data collection was confined to May 2019 and July 2020. Gene sequencing was performed using Sanger’s sequencing method for mutational analysis, and Mahidol scoring was used to grade clinical severity.Result: A total of 13 heterozygous mutations were identified in the HBB gene. Of all, IVS-1-5 (G>C) (n=17, 53.1%) was the most common, and codon 30 (G>C) (n=4, 12.5%) was the second most common mutations. According to the Mahidol scoring system, 37.5% (n=12) were classified as phenotypically mild, 43.8% (n=14) as moderate and 18.8% (n=6) as severe. The IVS-1-5(G>C) mutation was found to be frequently associated with severe disease and showed no mild form.Conclusion: The present study described the clinical severity and its association with genetic mutations in hemoglobin E/β-thalassemia patients. This finding could guide individually tailored management strategies for this particular group of patients.

scholarly journals Three Distinct Groups of Phenotype Severity in Beta-Thalassemia

Blood ◽  
2020 ◽  
Vol 136 (Supplement 1) ◽  
pp. 15-16
Author(s):  
Aurelio Maggio ◽  
Angela Vitrano ◽  
Antonella Meloni ◽  
Walter Addario Pollina ◽  
Mehran Karimi ◽  
...  
Keyword(s):  
Research Funding ◽  
Wide Spectrum ◽  
Ferritin Level ◽  
Iron Chelation ◽  
Study Data ◽  
Beta Thalassemia ◽  
Classification Error ◽  
Classification Error Rate ◽  
Transfusion Therapy ◽  
Risk Of Death

Background Thalassemia Syndromes (TS) are commonly classified as transfusion-dependent-thalassemia (TDT) or non-transfusion-dependent thalassemia (NTDT) at diagnosis on the basis of requirement for lifelong regular transfusion therapy for survival. However, data from observational studies and expert opinion suggest that these categories may reflect a wide spectrum rather than a dichotomy, and may actually be interchangeable at many parts of the disease journey. Thus, an evaluation of alternate clusters to classify TS patients remains of merit. Aims The aim of this study was to cluster TS patients on the basis of possible clinical indicators of phenotype severity (IPhS) using suitable algorithms and to determine whether these are able to detect cohorts with different clinical phenotypes. Methods Representatives from thirteen international centers from seven countries agreed on 19 IPhS to be collected for a retrospective study. Data from 7910 TS patients were collected. NbClust R Packagewas performed for exploring the existence of a substructure inside the studied TS population, determining the best number of clusters. Unsupervised Random Forest (RF)clustering and the Partitioning Around Medoids (PAM)algorithms were performed to define the clusters. The most important IPhS in defining clusters were selected according to the Gini index. Kaplan-Meier (K-M) survival curves of the identified clusters, defined by the selected IPhS, were used to represent the risk of death for these clusters. Results NbClust method showed the existence of three possible clusters. The RF-PAM procedure defined three distinct clusters with a classification error rate of 4.3% (Fig 1). Moreover, the most important IPhS were patient age, mean serum ferritin level, age at diagnosis, age at first transfusion, age at first iron chelation, and number of complications. K-M curves showed statistically significant differences in survival among the three clusters (p<0.0001,Fig 2a) but not between the original classification of NTDT and TDT (p=0.0651, Fig 2b). Conclusions The observation of statistically significant differences in survival between the three newly identified clusters but not the original TDT-NTDT classification confirms that the latter classification is interchangeable, and a new triad classification system is required. These findings warrant further evaluation in prospective studies to determine specific thresholds for IPhs indicators that can aid physicians in assigning classes and tailoring care, in order to improve survival in TS patients. Disclosures Meloni: Chiesi Farmaceutici S.p.A.: Other: speakers' honoraria. Pistoia:Chiesi Farmaceutici S.p.A.: Other: speakers' honoraria. Vichinsky:Novartis: Consultancy, Research Funding; Bluebird Bio: Consultancy, Research Funding; Agios Pharmaceuticals: Consultancy, Research Funding; Pfizer: Consultancy, Research Funding; GBT: Consultancy, Research Funding.

TALASEMIA BETA HEMOGLOBIN E

2016 ◽  
Vol 22 (1) ◽  
pp. 309
Author(s):  
Viviyanti Zainuddin ◽  
Agus Alim Abdullah ◽  
Mansyur Arif
Keyword(s):  
Clinical Manifestations ◽  
Iron Chelation ◽  
Hypochromic Anemia ◽  
Peripheral Blood Smear ◽  
Beta Thalassemia ◽  
Hemoglobin Variant ◽  
Thalassemia Patient ◽  
Hemoglobin E ◽  
Polypeptide Chains ◽  
Additional Therapy

Thalassemia is a quantitative abnormality of the hemoglobin marked by inadequate hemoglobin synthesis due to the lack or absence of synthesis of one or more globin polypeptide chains. Hemoglobin variant is a qualitative abnormality due to the presence of the abnormal amino acid sequence of one or more globin polypeptide chains. HbE β thalassemia is a disorder of hemoglobin that results from the fusion between the gene β-thalassemia allele from one parent with a gene HbE allele from another parent. In this case, HbE β-Thalassemia patient was a 4.8 year girl diagnosed with hemoglobin E-beta thalassemia based on history and clinical manifestations; pale, the presence of splenomegaly and hepatomegaly. Laboratory tests were Hb: 7.7 g/dL, MCV: 52.9 fl, MCH: 17.7 pg, MCHC: 33.5 g/dL and ferritin: 1012 ng/mL. Peripheral blood smear evaluation showed a microcytic hypochromic anemia with hemolytic signs andinfected features of leukocytes. Hb electrophoresis using HPLC showed a Hb F: 37.7% and HbA2 52.4%, indicating that HbA2 was false high due to coeluating with HbE. The patient was treated by blood transfusion and received additional therapy such as folic acid, iron chelation and vitamin E

Clinical-Reported Outcomes Of Deferoxamine Versus Deferasirox In The Treatment Of Homozygous BetaThalassemia

2018 ◽  
Vol 9 (SPL1) ◽  
Author(s):  
Zeina A Munim Al-Thanoon ◽  
Zeina A Munim Al-Thanoon ◽  
Mustafa Basil ◽  
Nasih A Al-Kazzaz
Keyword(s):  
Serum Ferritin ◽  
Iron Chelation ◽  
Iron Chelator ◽  
Beta Thalassemia ◽  
Control Group ◽  
Current Standard ◽  
Cross Sectional ◽  
Significant Difference ◽  
Multiple Blood ◽  
Group 2

Iron chelation therapy with deferoxamine (DFO),the current standard for the treatment of iron overload in patients with betathalassemia,requires regular subcutaneous or intravenous infusions. This can lead to reduced quality of life and poor adherence,resulting in increased morbidity and mortality in iron-overloaded patients with beta-thalassemia. Deferasirox (DFX) is an orally administered iron chelator that has been approved for use in many countries. The requirement of an effective,well tolerated iron chelator with a less demanding mode of administration has led to the development of deferasirox. The present study was aimed to compare the satisfaction and compliance with deferoxamine versus deferasirox (Exjade®),a novel oral iron chelator in patients with transfusion - dependent beta- thalassemia. A cross-sectional,single-center investigation study was carried out in the Thalassemia Center of Ibn-Atheer Teaching Hospital in Nineveh province,Iraq. One hundred and eight thalassemic patients aged between 2- 20 years old having received multiple blood transfusions and a serum ferritin greater than 1500 ng/ml. Patients were randomised into two groups. Group 1 received deferoxamine at a dose of 20-50mg/kg/day and group 2 received deferasirox at the dose of 10-30 mg/kg/day. Another 56 apparently healthy volunteers were used as a control group. The assessment of chelation was done during the period between November 2013 and February 2014 by measurement of serum ferritin. Satisfaction and compliance was assessed by using a special questionnaire prepared by the researcher. Out of the 108 thalassemic patients enrolled there was no discontinuation in treatment with the two drugs under study. The serum ferritin did not change significantly in any of the chelation groups. In comparison with the patients who were treated with DFO,those receiving DFX reported a significantly higher rate of compliance and satisfaction (P < 0.05). However,no significant difference was observed between the two groups regarding their satisfaction (P > 0.05).Compliance with deferasirox (50 %) was more than that with deferoxamine (20 %). Satisfaction with deferoxamine was significantly lower than deferasirox (p= 0.00).

Haematological Disease Pattern at Specialized HOPD - A study in Bangabandhu Sheikh Mujib Medical University

2018 ◽  
Vol 2 (02) ◽  
pp. 39-41
Author(s):  
Md. Rafiquzzaman Khan ◽  
Arifur Rahman ◽  
Khaza Amirul Islam ◽  
AQM Ashraful Haque ◽  
Masuda Begum
Keyword(s):  
Iron Deficiency ◽  
Chronic Myeloid Leukaemia ◽  
Myeloid Leukaemia ◽  
Iron Deficiency Anaemia ◽  
Beta Thalassemia ◽  
Female Ratio ◽  
Deficiency Anaemia ◽  
Beta Thalassaemia ◽  
Hb E ◽  
Medical University

The aim of this retrospective observational study was to observe the pattern and frequency of haematological disorders among the patients attending in the specialized Haematology outpatient Department (HOPD) in Bangabandhu Sheikh Mujib Medical University. Consecutive 201 patients over the period of one year were enrolled. Their age ranged from 01 to 72 years with a mean age of 36.76 years. Most of the patients (34.3%) were in between the ages of 31 to 45 years followed by 16 to 30 years (27.9%). Male to female ratio was 0.65. Iron deficiency anaemia is the most common (24.9%) followed by chronic myeloid leukaemia (11.9%), Hb E beta thalassaemia (9.5%), idiopathic thrombocytopenic purpura (9.5%), beta thalassaemia trait (7.0%), Hb E trait (5.5 %), aplastic anaemia (5.0%), multiple myeloma (3.5%), acute lymphoblastic leukaemia (3.0%). Acute myeloid leukaemia, autoimmune haemolytic anaemia, chronic lymphocytic leukaemia, anaemia of chronic disease, non-Hodgkin lymphoma, polycythaemia, beta thalassemia major and alpha thalassemia was 2.5%, 2.5%, 2.0%, 1.5%, 1.5%, 1.5%, 1.0% and 1.0%, respectively. In the present study, we observed that iron deficiency anaemia the most common non-malignant disease and chronic myeloid leukaemia is the common haematological malignancy.

scholarly journals Study on Estrogen Receptor, Progesterone Receptor and HER-2/ neu Expression Pattern by Immunohistochemistry in 87 cases of Invasive Breast Cancer

KYAMC Journal ◽  
2017 ◽  
Vol 5 (1) ◽  
pp. 436-443
Author(s):  
Md Shahadat Hossain ◽  
Ferdousy Begum ◽  
Ashim Ranjan Barua
Keyword(s):  
Breast Cancer ◽  
Estrogen Receptor ◽  
Progesterone Receptor ◽  
Expression Pattern ◽  
Invasive Breast Cancer ◽  
Standard Procedure ◽  
Low Grade ◽  
Positive Reactivity ◽  
Her 2 ◽  
Grade Tumour

Background: Now a day's determination of estrogen receptor (ER), progesterone receptor (PR) and HER-2/neu expression pattern by immunohistochemistry in invasive breast cancer have become the standard procedure for breast cancer management.Objective: To see the expression pattern of estrogen receptor, progesterone receptor and HER-2/neu in Bangladeshi women with invasive breast carcinoma.Method: This cross sectional study was performed in 87 cases of invasive breast cancer. Estrogen receptor (ER), Progesterone receptor (PR) and HER-2/neu expression pattern were assessed by immunohistochemistry using monoclonal antibodies for detecting estrogen and progesterone receptors, and polyclonal antibody for detecting HER-2/neu.Results: All the cases were graded according to Bloom-Richardson grading system. Of those, Grade I tumour was 18 (20.69%), Grade II tumour was 58 (66.67%) and Grade III tumour was 11(12.64%). Both ER and PR positive reactivity were same and it was found 65 (74.71%) and HER-2/neu reactivity pattern were found negative in 59 (67.82%) cases and positive in 28 (32.18%) cases. A statistically significant correlation was found between the expression of ER and low grade tumour (p=0.011) and combined estrogen and progesterone receptor positive reactivity with low grade tumour (p=0.002).Conclusion: ER, PR and HER-2/neu expression do not correlated with each other, so it is recommended that each test should be independently determined by immunohistochemistry in all cases of invasive breast cancer. All equivocal cases of HER-2/neu (score 2+) should be analyzed by FISH technique to find out the percentage of real score.KYAMC Journal Vol. 5, No.-1, Jul 2014, Page 436-443

scholarly journals HEMATOLOGICAL CHARACTERIZATION OF BETA-THALASSEMIA IN SUDANESE PATIENTS

2020 ◽  
pp. 5-7
Author(s):  
RABAB HASSAN ELSHAIKH ◽  
SANAA ELFATIH HUSSEIN
Keyword(s):  
Iron Deficiency ◽  
Hemoglobin Concentration ◽  
Mean Value ◽  
Beta Thalassemia ◽  
Mean Corpuscular Hemoglobin ◽  
Corpuscular Hemoglobin ◽  
Significant Difference ◽  
Hematological Analysis ◽  
The Mean

Thalassemia is common inherited disorder among humans, and they represent a major public health problem in many areas of the world. The study aimed to the measurement of hematological characterization of beta-thalassemia in Sudanese patients. Blood samples from 61 beta-thalassemic patients were collected after written consent form obtained from all participants. The frequency of adults (>18 years) was 45 (73.8%) and children’s (<18 years) was 16 (26.2%); the frequency of male was 27 (44.3%) and 34 were female (55.7%). Hemoglobin estimation and red cell indices were carried out using the automatic blood cell counter Sysmex K × 21N. The results showed that Hb and RBCs indices were varied between mild to moderate and severe decreasing, hemoglobin concentration (Hb) with the mean value of 9.6 g/dL, with minimum value of 6.1 g/dl and maximum of 11.9 g/dl, while RBCs were increased in all patients, mean value 5.2 c/l, mean corpuscular volume mean was 58.9 fl, hematocrit was 30.4, mean corpuscular hemoglobin (MCH) 18.8 pg, mean corpuscular hemoglobin concentration (MCHC) was 31.7pg, and RDW was 18.8%. The method used for hemoglobin electrophoresis was capillary electrophoresis, Hb pattern shows increased HbA2 and HbF, the mean of HbA is 78.3%, HbF is 2.3%, and HbA2 is 6.5% with the min. value of 3.6% and max. of 12.2%. While the mean of serum iron was 82.75 μg/dl, 7 patients showed low level, 19 high level, and 35 were normal level. Comparison of hematological analysis (HbA2) in thalassemic patients coexisted with iron deficiency and without result was insignificant difference (p=0.645), this result disagrees with references that say iron deficiency masking HbA2. Nevertheless, the association between HbA2 and HbF revealed a statistically significant difference (p<0.013) and HbA2 with Hb was insignificant (p=0.260).

scholarly journals Large Vallecular Masses; Differential Diagnosis and Imaging Features

2018 ◽  
Vol 8 ◽  
pp. 26 ◽  
Author(s):  
Ashim Kumar Lahiri ◽  
Krishna Kiran Somashekar ◽  
Bernd Wittkop ◽  
Christopher Ayshford
Keyword(s):  
Differential Diagnosis ◽  
Wide Spectrum ◽  
Tongue Base ◽  
Low Grade ◽  
Imaging Features ◽  
Disease Entity ◽  
Palatine Tonsils ◽  
Uncommon Disease ◽  
Mass Lesions ◽  
Supraglottic Larynx

Large vallecular masses are an uncommon disease entity which includes a wide spectrum of rare pathologies. These masses may present as purely vallecular in location or appear as an extension from adjacent anatomical sites like tongue base including lingual tonsils, epiglottis, palatine tonsils, epiglottis, and the remainder of supraglottis. Literature review reveals very rare conditions presenting as vallecular mass lesions. The imaging features are generally diagnostic for characterization. However, these masses can exhibit indeterminate appearance at imaging. We present a series of five cases which includes two rare presentations: a case of low-grade cribriform adenocarcinoma of the base of tongue and a vallecular lipoma. The other three cases presented for differential diagnosis including benign vallecular cysts and two cases to show that malignant masses arising from neighboring anatomical sites such as tongue base or supraglottic larynx can exhibit significant vallecular component.

scholarly journals Suggestive changes of human papillomavirus infection in students at a public university

2021 ◽  
Vol 106 (106(812)) ◽  
pp. 30-37
Author(s):  
J. Núñez ◽  
A. Romano ◽  
M. Medina ◽  
R.A. Cardozo
Keyword(s):  
Human Papillomavirus ◽  
Standard Procedure ◽  
Public Health Problem ◽  
Cross Sectional Study ◽  
Health Sciences ◽  
Low Grade ◽  
Global Public Health ◽  
Cross Sectional ◽  
Human Papillomavirus Infection ◽  
Papillomavirus Infection

Introduction: Sexually transmitted infections are a global public health problem. Objective: to analyze the results of cervical-vaginal cytologies with suggestive changes of Human Papillomavirus infection in students of the Faculty of Health Sciences of the University of Carabobo, who was attended the gynecology consultation of the Ambulatory “Nuestra Seora de la Luz” in 2016-2017. Method: descriptive, cross-sectional study. Population consisting of all students of the Faculty of Health Sciences who was attended the Gynecology Consultation at the Ambulatory mentioned above during the period under study. Non-probabilistic and intentional sample, inclusion criteria: age, acceptance to belong to the study by signing informed consent, and not suffering pathologies at the time of sampling or being pregnant. The collection of the information was carried out through the interview and subsequent cytological examination, and the cytological study was expressed according to the BETHESDA 2001 system. The sample for cervical-vaginal cytology was performed according to standard procedure. Results: average age of 21.43-2.47 years, 40.2% belonging to the low mean stratum, 9.2% smokers, sexarquia in ages 18-20 years in 52.6% of cases, 70% with 2 or 3 pairs. As for the cytology result, 9.2% was suggestive for Human Papillomavirus infection, while with the BETHESDA 2001 System, in the epithelial cell abnormalities section, 63.6% showed low-grade Human Papillomavirus -associated. Conclusions: in the sample, the suggestive changes to Human Papillomavirus infection, was higher than that found in other countries, whereas most interviewees presented risk factors to contract it, so emphasis on education is recommended conducting annual cytology to the at-risk population.

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