scholarly journals A cross-sectional study at tertiary care center in Assam

2021 ◽  
Vol 0 ◽  
pp. 1-4
Author(s):  
Uttam Kumar Mondal ◽  
Pritikar Dowerah ◽  
Ranajit Mukherjee
Keyword(s):  
Sickle Cell ◽  
Sickle Cell Trait ◽  
Care Center ◽  
Tertiary Care ◽  
Clinical Manifestations ◽  
Definitive Treatment ◽  
Beta Thalassemia ◽  
Target Cells ◽  
Hemoglobin E ◽  
Chronic Anemia

Objectives: The objectives of the study were to find out the prevalence, epidemiology, and clinicohematological profile of hemoglobinopathies. Material and Methods: During the period of September 2010–August 2011, an observational study was done in the Department of Pediatrics, Assam Medical College and Hospital, Dibrugarh. Children (<12 years) suffering from chronic anemia were the study population. Results: Hemoglobinopathies were noted in 72 (35.0%) out of 206 chronic anemia cases, of which sickle cell disease (SCD) was found in 23 cases (11.2%), beta-thalassemia major (BTM) in 21 cases (10.2%), hemoglobin E (HbE)-β thalassemia in 12 cases (5.8%), HbE disease was seen in 10 cases (4.8%), and HbE trait and sickle cell trait (SCT) in 3 cases each. Overall hemoglobinopathy was most commonly seen among teagarden community in Assam. Clinical presentation ranged from completely asymptomatic to congestive heart failure. In majority cases, decreased mean Hb (%) and mean corpuscular volume were found. Anisopoikilocytosis, reticulocytosis, and target cells were frequently noted in peripheral blood smear. Conclusion: Chronic anemia cases should be screened for hemoglobinopathies as these genetic disorders are commonly seen in Assam. SCD and BTM are the major types of hemoglobinopathies. Heterozygous hemoglobinopathies (HbE trait and SCT) had lesser clinical manifestations. As the definitive treatment of hemoglobinopathies is still difficult to avail in this region, genetic counseling should be considered for hemoglobinopathy patients and their families as well, to prevent new cases.

scholarly journals Clinical and laboratory features of Hemoglobin La Desirade variant in association with sickle cell and alpha thalassemia genes

2020 ◽  
Vol 13 (1) ◽  
pp. e2021010
Author(s):  
Salam Alkindi ◽  
Shoaib Al Zadjali ◽  
Mohamed Al Rawahi ◽  
Hamoud Al Haddabi ◽  
Shahina Daar ◽  
...  
Keyword(s):  
Sickle Cell ◽  
Sickle Cell Trait ◽  
Clinical Manifestations ◽  
Oxygen Affinity ◽  
Significant Degree ◽  
Beta Thalassemia ◽  
Compound Heterozygous ◽  
Laboratory Findings ◽  
Alpha Thalassemia ◽  
Hemoglobin Variants

Abstract Hemoglobin La Desirade (Hb La Desirade) is an unstable hemoglobin variant characterized by amino acid Alanine (Ala) replacing Valine (Val) at position 129 (H7) in the beta chain. Hb La Desirade exhibits a decreased oxygen affinity and normal heme-heme interaction. Interestingly, on analysis by standard electrophoresis, it migrates in the same region as normal HbA, and HbA actually represents a combination of HbA and Hb La Desirade together. This variant was reported as compound heterozygous with other Hemoglobin variants such as HbS, HbC or beta thalassemia, and more recently with Southeast Asian ovalocytosis and Hb Louisville with varying clinical manifestations.  Herein, we describe the clinical and laboratory findings in a number of Omani Arab families who presented to our service for various reasons, presenting with Hemoglobin La Desirade with sickle gene and alpha thalassemia. Our patients with Hb La Desirade trait, were clinically asymptomatic with no evidence of anemia. However when it is associated with other abnormal hemoglobin variants such as HbS, leading to sickle/La Desirade compound heterozygosity, there was mild anemia with significant degree of hypochromia and microcytosis. The most striking feature was that the levels of HbS and HbA were almost equal on HPLC, and these cases could be misdiagnosed as sickle cell trait (SCT). However, the levels of Hb S in these compound heterozygotes (40.4-45.9) were higher than normally seen for the diagnosis of SCT in this population.  

scholarly journals A clinico-haematological study of hereditary hemoglobinopathies: a tertiary care centre experience

2021 ◽  
Vol 9 (8) ◽  
pp. 2309
Author(s):  
Bhagyalakshmi Atla ◽  
Venkata Satya Kartheek Botta ◽  
Padmapriya Balakrishnan ◽  
Neelima Lalam ◽  
Anuradha Argi ◽  
...  
Keyword(s):  
Sickle Cell ◽  
High Performance ◽  
Complete Blood Count ◽  
Sickle Cell Trait ◽  
Venous Blood ◽  
Tertiary Care ◽  
Beta Thalassemia ◽  
Compound Heterozygous ◽  
Common Symptom ◽  
Tertiary Care Centre

Background: Hemoglobinopathies are the cause of concern in India for not only its effect on the quality of life in patients but also for their inheritance patterns. Tribal population of Visakhapatnam district has a high chance of inheriting hemoglobinopathies due to their culture of consanguineous marriage. Aim and objectives of current study were to know the distribution of various abnormal haemoglobins in cases with clinical suspicion of hemoglobinopathies.Methods: This hospital-based observational study was conducted for a period of 10 months in the department of pathology, Andhra Medical College, Visakhapatnam. A total of 151 cases with suspected hemoglobinopathies, their parents, and siblings were screened for the presence of hemoglobinopathies. 3ml of venous blood was collected to perform complete blood count, peripheral smear, reticulocyte count, sickling test and High Performance liquid chromatography (HPLC).Results: In the present study, out of 151 cases, 55 cases (36.42%) were adults, and 96 cases (63.57%) cases were children. 67cases (44.37%) were asymptomatic and 84 (55.62%) were symptomatic. The most common symptom of subjects are fever (23 cases, 27.38%) and dyspnoea (22 cases, 26.19%). 85 cases (56.29%) had normal HPLC, and 66 cases (43.70%) had abnormal hemoglobin variants. The most common hemoglobinopathy detected by HPLC was sickle cell trait (36 cases, 23.84%) followed by homozygous sickle cell anemia 15 (9.93%). Other hemoglobinopathies detected were beta-thalassemia trait; 8 cases (5.29%) and compound heterozygous sickle beta-thalassemia 3 cases (1.98%).Conclusions: Endemic areas for hemoglobinopathies has to be screened with HPLC along with complete hemogram in suspicious cases for the better diagnosis and management of the condition.

Generation of Transgenic Mice Expressing Human Hemoglobin E.

Blood ◽  
2004 ◽  
Vol 104 (11) ◽  
pp. 3583-3583
Author(s):  
Qiuying Chen ◽  
Eric E. Bouhassira ◽  
Arnaud Besse ◽  
Sandra M. Suzuka ◽  
Mary E. Fabry ◽  
...  
Keyword(s):  
Animal Model ◽  
Transgenic Mice ◽  
Clinical Manifestations ◽  
Oxidation Products ◽  
Beta Thalassemia ◽  
Target Cells ◽  
Hemoglobin E ◽  
Globin Chains ◽  
Hemoglobin Oxidation ◽  
Splicing Site

Abstract HbE (β26 Glu → Lys) is the most common pathogenic Hb variant in the world and is found with the greatest frequency in Southeast Asia. The HbE mutation at codon 26 of the βE-globin leads to an alternative splicing site, making this globin both a structural as well as a thalassemic mutation; furthermore, βE globin chains are unstable. HbE trait is asymptomatic and the HbEE genotype has only mild clinical manifestations. On the other hand, HbE/thalassemia presents a panoply of phenotypes from very severe to a mild beta/+ thalassemia. To date, there is no animal model of HbE disease. An animal model of this disorder could lead to better understanding of the effects of modifier genes and some of the pathogenic features of this disease. In addition, an animal model can facilitate the development of gene therapy. We report here the creation of four lines of transgenic mice that are PCR positive for HbE: two with founders that express high levels of HbE (32% human α, 26% human βE), one with low expression of HbE (9% human α, 8% βE), and one without detectable expression, but PCR positive. Knockouts (KOs) for mouse α and β globins have been bred into the founders. To date, the most severe mouse generated has a full KO of mouse α and a partial KO of mouse β. RBCs from all of the partial KOs generated to date have normal MCHC and minimally elevated reticulocyte counts (less than 1% greater than the C57Bl background). We previously demonstrated that HbEE RBCs are microcytic, but have normal MCHC. We found that HbE mice with full α-KO and partial β-KO, are microcytic (MCH 10.9 vs 14.2 for C57Bl and MCV 35.4 vs 47.5 for C57Bl), but have normal MCHC (MCHC 30.0 vs 30.5 for C57Bl). Smears from these mice exhibit numerous target cells that are not necessarily associated with low MCHC. As reported for human red cells containing HbE, elevated levels of hemoglobin oxidation products were detected in founder mice expressing HbE, but not in negative litter mates, and were found, at an even higher level, in partial KO mice expressing HbE. The next step will be to generate a mouse similar to the HbE/thalassemia phenotype by generating mice expressing exclusively HbE from either the lines expressing high levels of HbE or the line expressing low levels of HbE. These models will help elucidate several of the challenging features of the phenotypes described in humans and allow for the development of the potential cure or amelioration of HbE/thalassemia.

scholarly journals Deep Cerebral Venous Thrombosis—A Clinicoradiological Study

2021 ◽  
Author(s):  
Sujana Gogineni ◽  
Dhananjay Gupta ◽  
R. Pradeep ◽  
Anish Mehta ◽  
Mahendra Javali ◽  
...  
Keyword(s):  
Venous Thrombosis ◽  
Care Center ◽  
Tertiary Care ◽  
Clinical Manifestations ◽  
Arterial Occlusion ◽  
Venous System ◽  
Common Risk Factor ◽  
Imaging Characteristics ◽  
Deep Cerebral Venous Thrombosis ◽  
High Index Of Suspicion

AbstractStroke is a common neurological emergency. Almost 80% of strokes are due to arterial occlusion. Venous thrombosis comprises less than 1–2% of all strokes. Involvement of the deep cerebral venous system is still rare and accounts for about 10.9% of all cerebral venous thromboses (CVT). CVT diagnosis is often delayed or missed, because of its variable clinical manifestations. We retrospectively (2015–18) and prospectively (2018–20) reviewed all the cases of CVT in a tertiary care center in south India. Out of a total of 52 CVT cases, 12 were due to the involvement of deep cerebral venous system. Their clinical presentation, imaging characteristics, and outcomes were assessed. The most frequent presentation was headache followed by seizures. Hyperhomocysteinemia was the most common risk factor noted. Imaging characteristics were variable, and a high index of suspicion was required for early diagnosis. All patients had favorable outcome in our study, and except one, all were treated conservatively.

APPROACHES TO SCREENING

PEDIATRICS ◽  
1989 ◽  
Vol 83 (5) ◽  
pp. 858-860
Author(s):  
Mary S. Harris ◽  
James R. Eckman
Keyword(s):  
Newborn Screening ◽  
Sickle Cell ◽  
Community Education ◽  
Sickle Cell Trait ◽  
Screening Program ◽  
Tertiary Care ◽  
The State ◽  
Public Health Department ◽  
Newborn Screening Program ◽  
Tertiary Care Centers

Georgia's newborn screening program for hemoglobinopathies has been evolving for more than 23 years. The program began in 1964 with the screening of infants at 6 months of age and progressed to the full-scale implementation of a statewide hemoglobinopathy newborn screening program in 1980. The program functions as a cooperative effort with several major components: two tertiary care centers, a community-based clinic, and the state public health department. The tertiary care centers consist of the Augusta Comprehensive Sickle Cell Center affiliated with the Medical College of Georgia and the Georgia Sickle Cell Center at Grady Hospital affiliated with Emory University School of Medicine. These two centers are responsible for patient care, education, and research. The community component consists of the Sickle Cell Foundation of Georgia, which is responsible for counceling clients with sickle cell trait, community education, and notification of parents of infants with normal test results. The state component consists of the Georgia Department of Human Resources, which is responsible for program administration and primary laboratory testing. The program components coordinate their services through a voluntary organization known as the Georgia Sickle Cell Task Force. The organization consists of representatives from agencies and organizations actively involved in the provision of services for patients with sickle cell disease. The members of this organization work together to ensure an efficient service network for education, testing, counseling, patient management, program monitoring, and evaluation. Georgia's screening program can best be described as a targeted, voluntary, mandatory screening program, which means that, unless the mother objects to having her infant tested on religious grounds, infants in 13 ethnic groups are automatically tested because they are considered at risk (African, Arabian, Central American, Greek, Maltese, Hispanic, Indian, Portuguese, Puerto Rican, Sardinian, Sicilian, South American, and Southern Asian).

scholarly journals IS HEMOGLOBIN E GENE WIDELY SPREAD IN THE STATE OF MADHYA PRADESH IN CENTRAL INDIA? EVIDENCE FROM FIVE TYPICAL FAMILIES

2014 ◽  
Vol 6 (1) ◽  
pp. e2014060 ◽  
Author(s):  
R S Balgir
Keyword(s):  
Sickle Cell ◽  
Clinical Manifestations ◽  
Central India ◽  
Madhya Pradesh ◽  
Red Cell ◽  
Hemoglobin E ◽  
Vulnerable People ◽  
Hb E ◽  
Double Heterozygosity ◽  
First Time

Background: Red cell inherited hemoglobin anomalies are commonly encountered in the central region of India. These cause a public health concern due to high degree of morbidity, mortality, and fetal loss in the backward, underprivileged, and vulnerable people. Purpose: To report five typical families of hemoglobin E disorders identified for the first time in the state of Madhya Pradesh from central India. Methods: Out of a total of 445 couples/families (excluding the present study) with 1526 persons (848 males and 678 females) referred from a tertiary hospital in central India for investigations of anemia/hemoglobinopathies during the period from March 2010 to February 2014, we came across five typical rare couples/families of hemoglobin E disorders worthy of detailed investigations. Laboratory investigations were carried out following the standard procedures after cross checking for quality control from time to time. Results: For the first time, we have encountered nine cases of heterozygous hemoglobin E trait, two members with hemoglobin E-β-thalassemia (double heterozygosity), two cases of sickle cell-hemoglobin E disease (double heterozygosity), and none with homozygous hemoglobin E. Cases  of hemoglobin E trait, hemoglobin E-β-thalassemia, sickle cell-β-thalassemia and sickle cell-E disease showed moderate to severe anemia, and target cells, and reduced values of red cell indices like RBC, Hb level, HCT, MCV, MCH and MCHC, representing abnormal hematological profile and clinical manifestations before blood transfusion. Conclusions: Double heterozygosity for hemoglobinopathies such as occurrence of β-thalassemia mutation with structurally abnormal hemoglobins (Hb S and Hb E) is a rare entity, but occurs with severe clinical manifestations only in those areas or communities where these are highly prevalent, testifying the migrations and genetic admixture. Distribution of hemoglobin E and β-thalassemia in different districts of Madhya Pradesh indicates that abnormal Hb E gene has wide spread and needs prevention for the rehabilitation of vulnerable people in central India. 

scholarly journals Frequency and clinical manifestations of post-poliomyelitis syndrome in a brazilian tertiary care center

2012 ◽  
Vol 70 (8) ◽  
pp. 571-573 ◽  
Author(s):  
Abrahão Augusto Juviniano Quadros ◽  
Mônica Tilli Reis Pessoa Conde ◽  
Luis Fabiano Marin ◽  
Helga Cristina Almeida Silva ◽  
Tatiana Mesquita e Silva ◽  
...  
Keyword(s):  
Joint Pain ◽  
Care Center ◽  
Neuromuscular Disorders ◽  
Tertiary Care ◽  
Clinical Manifestations ◽  
Paralytic Poliomyelitis ◽  
Prior History ◽  
Cold Intolerance ◽  
Infection Age ◽  
History Of

OBJECTIVE: To determine the frequency and clinical manifestations of patients with post-poliomyelitis syndrome (PPS) in a Brazilian division of neuromuscular disorders. METHODS: A total of 167 patients with prior history of paralytic poliomyelitis was investigated for PPS, based on international diagnostic criteria. Other variables analyzed were: gender, race, age at poliomyelitis infection, age at PPS onset, and PPS symptoms. RESULTS: One hundred and twenty-nine patients presented PPS, corresponding to 77.2% of the studied population. 62.8% were women and 37.2% were men. Mean age of patients with PPS at onset of PPS symptoms was 39.9±9.69 years. Their main clinical manifestations were: new weakness in the previously affected limbs (69%) and in the apparently not affected limbs (31%); joint pain (79.8%); fatigue (77.5%); muscle pain (76%); and cold intolerance (69.8%). CONCLUSIONS: Most patients of our sample presented PPS. In Brazil, PPS frequency and clinical features are quite similar to those of other countries.

scholarly journals Profile of Paediatric Poisoning at a Tertiary Care Center in Karnataka

2014 ◽  
Vol 2 (2) ◽  
pp. 142-145
Author(s):  
DK Dnyanesh ◽  
Suma Dnyanesh ◽  
Roopa Bellad
Keyword(s):  
Urban Areas ◽  
Care Center ◽  
Tertiary Care ◽  
Gastric Lavage ◽  
Acute Poisoning ◽  
Definitive Treatment ◽  
Accidental Poisoning ◽  
Age Group ◽  
Tertiary Care Center ◽  
Paediatric Patients

Objectives: To determine the profile and outcome of paediatric patients presenting with poisoning to a tertiary care center in Karnataka. Methods: Retrospectively we studied the PICU records of all the paediatric patients who presented with acute poisoning during the 4-years period from Feb 2010 to Jan 2014. All children aged less than 18 years with a definite history and suspected cases of poisoning were included. Results: 106 patients presented with acute poisoning during the study period. The majority of our patients were in the 0 - 6 year age group. Poisoning in this age group was most common with higher frequency in males, the ratio being 1.2:1. The agents most frequently used were hydrocarbons (43.1%), pyrethrine compounds 15.5%, Organo-Chlorine compounds 12.1%drugs, Organo-Phospherous compounds 12.1%, drugs 1.8%. In 1 - 6 year age group 54.7% cases were accidental in nature, whereas in the 12 - 18 year group 93.3% were suicidal. All patients were symptomatic and needed symptomatic or definitive treatment. 21 patients required mechanical ventilation. Almost 3/4th of patients underwent Gastric lavage. Specific antidote was given to 41 patients. 2 patients of OP poisoning died. Conclusion: Our study concluded that accidental poisoning is common in 0-6 year children, the common substance being used in rural areas was kerosene and in urban areas it was found to be pyrethrin compounds. Lack of awareness of parents regarding appropriate storage of these dangerous household products is the main cause. Measures should be taken to educate the parents and public in order to decrease the poisoning cases. Suicidal cases are increasing in adolescents and precipitating factors like exam fear, exam failure, love failure and parental pressure regarding studies needs counseling of both parents and childrenDOI: http://dx.doi.org/10.3126/ijasbt.v2i2.10140Int J Appl Sci Biotechnol, Vol. 2(2): 142-145 

scholarly journals Juvenile dermatomyositis in Thai children: Retrospective review of 30 cases from a tertiary care center

2021 ◽  
Vol 0 ◽  
pp. 1-9
Author(s):  
Rattanavalai Nitiyarom ◽  
Sirirat Charuvanij ◽  
Surachai Likasitwattanakul ◽  
Chaiwat Thanoophunchai ◽  
Wanee Wisuthsarewong
Keyword(s):  
Juvenile Dermatomyositis ◽  
Care Center ◽  
Tertiary Care ◽  
Inflammatory Myopathy ◽  
Clinical Manifestations ◽  
Multicenter Studies ◽  
Extraskeletal Osteosarcoma ◽  
Calcinosis Cutis ◽  
Tertiary Referral Center ◽  
Presenting Symptoms

Background: Juvenile dermatomyositis is a rare condition, but it is the most common idiopathic inflammatory myopathy in pediatric patients. Aim: To study the clinical manifestations, investigations, treatment, clinical course, and outcomes of juvenile dermatomyositis in Thai children. Method: This retrospective study included juvenile dermatomyositis patients treated at Siriraj Hospital, a 2,300-bed national tertiary referral center in Bangkok, Thailand, from 1994 to 2019. Results: Thirty patients (22 females and 8 males) were included with a female to male ratio of 2.7:1. Median age at diagnosis was 5.1 years (range, 2.6-14.8 years). Median duration of illness before diagnosis was 6.5 months (range, 0.3-84.0 months). Acute and subacute onset occurred in the majority of patients. Presenting symptoms included muscle weakness in 27/30 (90%), skin rash in 26/30 (86.7%), muscle pain in 17/26 (65.4%), and arthralgia in 4/18 (22.2%) of patients. Dermatologic examination revealed Gottron’s rash, heliotrope rash, and periungual telangiectasia in 25/30 (83.3%), 21/30 (70.0%), and 15/24 (62.5%) of patients, respectively. Interestingly, scalp dermatitis was found in 8/21 (38.1%) of patients. The most commonly used treatment regimen in this series was a combination of prednisolone and methotrexate. During the median follow-up of 3.1 years (range, 0.0-18.5 years), only one-third of patients were seen to have monocyclic disease. Extraskeletal osteosarcoma at a previous lesion of calcinosis cutis was observed in one patient at 12 years after juvenile dermatomyositis onset. Limitations: This was a retrospective single-center study, and our results may not be generalizable to other healthcare settings. Prospective multicenter studies are needed to confirm the findings of this study. Conclusion: juvenile dermatomyositis usually poses a diagnostic and therapeutic challenge, which can be compounded by the ethnic variations in the clinical presentation, as observed in this study. Asian patients tend to present with acute or subacute onset of disease, and arthralgia and/or arthritis are less common than in Caucasian patients. Scalp dermatitis is not uncommon in pediatric juvenile dermatomyositis patients. An association between juvenile dermatomyositis and malignancy, though rare, can occur.

scholarly journals Immunoglobulin A (IgA) Nephropathy in Protocol Graft Kidney Biopsy done at six months Post Transplantation in a Tertiary Care Center Hospital of Nepal

2017 ◽  
Vol 6 (1) ◽  
pp. 6-11
Author(s):  
Midhan Shrestha ◽  
Dibya Singh Shah
Keyword(s):  
Iga Nephropathy ◽  
Care Center ◽  
Tertiary Care ◽  
Clinical Signs ◽  
Clinical Manifestations ◽  
University Teaching ◽  
Time Interval ◽  
Post Transplantation ◽  
Protocol Biopsy ◽  
Post Transplant

Background: Renal transplantation is the treatment of choice for end stage renal disease. The focus of interest has been to increase the life of the transplanted graft. Recurrence of native kidney disease or occurrence of denovo glomerulonephritis has adverse effects in graft survival. Protocol graft biopsy done at fixed time interval after transplantation aids in early identification of post-transplant glomerulonephritis before development of clinical signs and symptoms. This study describes the incidence of post-transplant IgA Nephropathy in protocol renal graft biopsies done at six months post- transplantation.Materials and Methods: This is a hospital based observational descriptive study, done in Tribhuvan University Teaching Hospital, Kathmandu, Nepal, a tertiary medical referral center in the capital. Protocol biopsy of the graft kidney was performed at six months post-transplantation in all recipients who underwent kidney transplantation in this hospital between 2071 Kartik and 2072 Ashwin.Results: Protocol biopsy was performed in total 47 recipients. Mean age of the recipients was 33.7 years ±10.83 years. The study population consisted of 33 (70.2%) male and 14 (29.8%) female recipients. IgA Nephropathy was present in 6 (12.8%) recipients.Conclusion: Our study demonstrates that IgA Nephropathy does occur in patients with stable GFR and without any clinical or laboratory abnormalities. Protocol biopsy is valuable in detection of early histologic abnormalities before onset of clinical manifestations, thus helping in prompt management with aim to prolong the graft survival.Journal of Nobel Medical CollegeVolume 6, Number 1, Issue 10 (January-June, 2017)

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