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1.
Indian J Otolaryngol Head Neck Surg ; 75(4): 3581-3584, 2023 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-37974677

RESUMO

Various methods of reconstruction are available for reconstructing oral cancer defects, but all of them have their inherent drawbacks. The superiorly based platysma myocutaneous flap is a common reconstruction option for intra-oral defects following oral cancer resections. We present our results of using platysmal flaps in reconstructing intraoral defects following oral cavity cancer resection in our 7 patients along with resection of three cases of premalignant conditions of oral cavity. All the patients were males of age ranging from 24 to 42 years and diagnosed as squamous cell carcinoma of oral cavity stage I and II were included in this study.Of 10 patients eight had no postoperative complications. One patient developed partial skin loss of neck donor site, which was managed conservatively. Other patient had complete flap loss which healed with secondary intention. We recommend this flap as incision is always away from the face, the scars are hidden beneath collars and the patients are very comfortable with good cosmetics and functional outcomes.\.

2.
Indian J Hematol Blood Transfus ; 39(4): 565-571, 2023 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-37786815

RESUMO

Hemolysis, a crucial feature of Sickle cell disease (SCD), is a key player for cellular activation leading to various complications including thrombosis. In response to hemolysis, platelets get activated and release components that are necessary for further platelet activation and aggregation. Thus, it is believed that platelets contribute to the development of thrombotic complications. Platelets in SCD are expected to be affected due to common cause of hemolysis. To measure the surface markers of platelets including P-Selectin, Phosphatidyl Serine and integrin αIIbß3 in SCD patients and healthy controls in order to understand the status of the platelets in SCD. To measure the surface markers of activated platelets using flow cytometry. Since mitochondria and calcium play an important role in cellular functions, the mitochondrial membrane potential and calcium content of platelets in SCD were also evaluated using flow cytometry. In the present study, we have observed significant increase of calcium level in SCD platelets. Further, the loss of mitochondrial membrane potential in SCD platelets was found to be significantly higher when compared to platelets of healthy controls. Though the surface markers of activated platelets in SCD remain unchanged, increased level of calcium and mitochondrial membrane potential loss suggest that the platelets in SCD are more prone to become activated. In order to understand the status of the platelets in SCD, apart from the surface markers, it is also important to assess the calcium levels and mitochondrial membrane potential of platelets.

3.
Heart Int ; 17(2): 6-11, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-38419720

RESUMO

Sarcopenic obesity (SO) is a chronic condition and an emerging health challenge, in view of the growing elderly population and the obesity epidemic. Due to a lack of awareness among treating doctors and the non-specific nauture of the associated symptoms, SO remains grossly underdiagnosed. There is no consensus yet on a standard definition or diagnostic criteria for SO, which limits the estimation of the global prevalence of this condition. It has been linked to numerous metabolic derangements, cardiovascular disease (CVD) and mortality. The treatment of SO is multimodal and requires expertise across multiple specialties. While dietary modifications and exercise regimens have shown a potential therapeutic benefit, there is currently no proven pharmacological management for SO. However, numerous drugs and the role of bariatric surgery are still under trial, and have great scope for further research. This article covers the available literature regarding the definition, diagnostic criteria, and prevalence of SO, with available evidence linking it to CVD, metabolic disease and mortality, and an overview of current directives on management.

4.
J Assoc Physicians India ; 69(4): 11-12, 2021 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-34470191

RESUMO

The concept of SGLT2-inhibition, once regarded as a non-physiological approach to glycemia control, now finds a foundational relevance in risk-modification for cardiovascular, kidney, and metabolic outcomes, spanning beyond type-2 diabetes. Major studies have proven meaningful improvements in various clinical outcomes, with different SGLT2-i agents. Apart from glycosuria, SGLT2-inhibition is associated with several patho-physiological effects, which may contribute to the clinical benefits seen with these agents. This narrative review is an attempt to appraise the different patho-physiological effects mediated by SGLT2-inhibition, based on contemporary evidence. The review classifies these effects in the acronym of EUPHORIA, and grades the possible relevance of each effect, in improving clinical outcomes.


Assuntos
Doenças Cardiovasculares , Diabetes Mellitus Tipo 2 , Inibidores do Transportador 2 de Sódio-Glicose , Doenças Cardiovasculares/prevenção & controle , Diabetes Mellitus Tipo 2/tratamento farmacológico , Euforia , Homeostase , Humanos , Hipoglicemiantes , Transportador 2 de Glucose-Sódio
5.
Eur Endocrinol ; 16(2): 113-121, 2020 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-33117442

RESUMO

Cardiorenal syndrome (CRS) in people with type 2 diabetes mellitus (T2DM) illustrates the bidirectional link between the heart and the kidneys, with acute or chronic dysfunction of one organ adversely impacting the function of the other. Of the five subtypes identified, type 1 and 2 CRS occur because of the adverse impact of cardiac conditions on the kidneys. Type 3 and 4 occur when renal conditions affect the heart, and in type 5, systemic conditions impact the heart and kidneys concurrently. The cardiovascular and renoprotective benefits evidenced with sodium-glucose cotransporter-2 (SGLT2) inhibitors make them a potential choice in the management of CRS. Cardiovascular protection is mediated by a reduction in cardiac workload, blood pressure, and body weight; with improvement in lipid profile, uric acid levels, and adaptive ketogenesis process. Renoprotection is facilitated by reduction in albuminuria and hypoxic stress, and restoration of tubuloglomerular feedback. The favourable effect on cardiovascular complications and death, as well as renal complications and progression to end-stage kidney disease, has been confirmed in clinical trials. Guidelines endorse first-line use of SGLT2 inhibitors after metformin in patients with T2DM with high cardiovascular risk, chronic kidney disease or both. Since most trials with SGLT2 inhibitors excluded subjects with acute illness, patients with CRS subtypes 1 and 3 have not been studied adequately, making SGLT2 initiation in clinical practice challenging. Ongoing trials may provide evidence for SGLT2 inhibitor use in CRS. This review aims to enhance understanding of CRS and provide guidance for judicious use of SGLT2 inhibitors in T2DM.

6.
J Pak Med Assoc ; 70(6): 1094-1098, 2020 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-32810116

RESUMO

Cardiovascular disease (CVD) is a major cause of morbidity and mortality across the globe. Prevention and management of the CVD pandemic calls for concerted action on part of all health care professionals, as well as other concerned stakeholders. We call for cardiovigilance in healthcare and define it as "the action or state of keeping careful watch, to prevent, screen, diagnose and manage cardiovascular disease (CVD) in a timely and appropriate manner". We expand upon the concept of cardiovigilance, describe its utility, and suggest various taxonomic rubrics to simplify its practice.


Assuntos
Doenças Cardiovasculares , Doenças Cardiovasculares/diagnóstico , Doenças Cardiovasculares/epidemiologia , Humanos , Fatores de Risco
7.
Indian Heart J ; 72(3): 184-188, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32768018

RESUMO

INTRODUCTION: Upper limb arterial access is being increasingly used for coronary diagnostic and intervention procedures. Radial artery access is associated with reduced morbidity and mortality as compared to femoral artery access. However, access to the radial artery is not always successful with reported crossover rates to other routes between 3% and 8%. Ulnar artery access is emerging an attractive option both as upfront access and rescue access in case of failure to obtain radial artery access. AIMS -: To assess and document the feasibility and safety of ulnar access as a default strategy. METHODS: 2654 patients planned for coronary diagnostic and intervention procedureswere assessed for inclusion. Inclusion criteria were, all patients planned for coronary angiography (CAG) or percutaneous coronary intervention (PCI) with palpable ulnar pulse. Exclusion criteria included reverse Barbeau test type D, previous procedure resulting in radial artery occlusion/excision, hemodialysis patients having ipsilateral AV fistula and severe forearm deformities. RESULTS: 2525 patients were found eligible, out of which 2495 (98.81%) were successfully cannulated. Procedure was completed in 2414 patients. Local site bleeding in 40 (1.6%) and acute loss of ulnar pulse noted in 33 (1.3%) out of 2495 patients. None of the patients had gangrene of access site, pseudo-aneurysm, arteriovenous fistula or neurological deficit post procedure. CONCLUSION: The Ulnar artery access as a default access is safe and feasible option for patient undergoing coronary diagnostic and interventional procedures.


Assuntos
Cateterismo Periférico/métodos , Angiografia Coronária/métodos , Doença da Artéria Coronariana/cirurgia , Intervenção Coronária Percutânea/métodos , Doença da Artéria Coronariana/diagnóstico , Estudos de Viabilidade , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Artéria Radial , Reprodutibilidade dos Testes , Artéria Ulnar
8.
J Pak Med Assoc ; 70(Suppl 3)(5): S77-S80, 2020 May.
Artigo em Inglês | MEDLINE | ID: mdl-32515382

RESUMO

The COVID19 (Corona Virus Disease: pandemic started in 2019) pandemic has created not only a public health problem, but as a clinical challenge as well. To the cardiologist, COVID 19 presents a wide spectrum of possibilities for clinical decision-making intervention and improvement. Cardiac dysfunction has been identified as a risk factor, a prognostic factor, a diagnostic tool, differential diagnosis, a complication of COVID 19, and a side effect of its treatment. Certain cardiotropic drugs have been implicated in the pathogenesis of COVID 19. The risk of transmission of COVID 19 is an occupational hazard which cannot be ignored by cardiologists. This review discusses the need and scope of cardio vigilance in COVID 19 management.


Assuntos
Betacoronavirus , Infecções por Coronavirus , Cardiopatias , Pandemias , Pneumonia Viral , COVID-19 , Tomada de Decisão Clínica , Infecções por Coronavirus/complicações , Infecções por Coronavirus/diagnóstico , Infecções por Coronavirus/epidemiologia , Cardiopatias/complicações , Cardiopatias/tratamento farmacológico , Cardiopatias/epidemiologia , Humanos , Pneumonia Viral/complicações , Pneumonia Viral/diagnóstico , Pneumonia Viral/epidemiologia , Fatores de Risco , SARS-CoV-2
9.
J Pak Med Assoc ; 70(12(A)): 2289-2290, 2020 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-33475616

RESUMO

Heart failure (HF) is an important, yet under recognized and under diagnosed complication of diabetes. This communication describes the clinical features of heart failure, and shares a validated tool which helps identify HF. This information will be of help to all health care professionals, especially those who work in primary care settings with minimal access to advanced imaging and biochemical investigations.


Assuntos
Diabetes Mellitus , Insuficiência Cardíaca , Biomarcadores , Diabetes Mellitus/diagnóstico , Diabetes Mellitus/epidemiologia , Insuficiência Cardíaca/diagnóstico , Insuficiência Cardíaca/etiologia , Humanos , Programas de Rastreamento , Peptídeo Natriurético Encefálico , Fragmentos de Peptídeos , Volume Sistólico
10.
J Pak Med Assoc ; 69(11): 1746-1749, 2019 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-31740893

RESUMO

Atrial fibrillation (AF) is the most commonly encountered arrhythmia in cardiology practice. A diagnosis of AF implies a greater need for hospitalization, a higher risk of stroke and heart failure, and earlier mortality. These complications can be avoided if AF is diagnosed and treated in a timely manner. To achieve this, physicians need to maintain a high index of clinical suspicion, practice cardiovigilance, and screen for AF in appropriate clinical settings. This review describes the vast spectrum of endocrine and metabolic disease that are associated with AF. Through this perspective, it encourages physicians and endocrinologists to play an active role in AF detection, referral and long term management.


Assuntos
Fibrilação Atrial , Doenças do Sistema Endócrino , Fibrilação Atrial/etiologia , Fibrilação Atrial/fisiopatologia , Doenças do Sistema Endócrino/complicações , Doenças do Sistema Endócrino/fisiopatologia , Hormônios Esteroides Gonadais , Humanos , Fatores de Risco , Vitamina D
11.
J Pak Med Assoc ; 69(5): 747-748, 2019 May.
Artigo em Inglês | MEDLINE | ID: mdl-31105304

RESUMO

This communication highlights the concept of angina equivalents as an important symptom of cardiovasculardisease in diabetes. The authors share two mnemonics, as simple as ABCDE, which can help identify atypical cardiovascular disease. Use of these learning tools should help improve early detection and management of cardiovascular disease.


Assuntos
Síndrome Coronariana Aguda/diagnóstico , Angina Pectoris/diagnóstico , Complicações do Diabetes/diagnóstico , Diabetes Mellitus , Isquemia Miocárdica/diagnóstico , Doença Aguda , Doenças Cardiovasculares/diagnóstico , Doença Crônica , Humanos
12.
J Pak Med Assoc ; 69(3): 437-439, 2019 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-30890843

RESUMO

Atrial fibrillation (AF), the commonest arrhythmia in clinical practice, is also the commonest arrhythmia for which hospitalization is required. AF is associated with a 5 fold increase in stroke, a 2 fold increase in all-cause mortality, and a higher risk of heart failure. Hence, it is imperative to focus on the risk factors and clinical features of this condition, so that it can be prevented and managed in a timely manner. AF is linked with multiple metabolic and endocrine morbidities. This implies that the endocrinologist has an important role to play in AF detection and referral. This review, the first of a two part series, encourages preventive cardiovigilance, and especially electro-cardiovigilance, in diabetes practice.


Assuntos
Fibrilação Atrial/prevenção & controle , Diabetes Mellitus , Anticoagulantes/uso terapêutico , Fibrilação Atrial/complicações , Fibrilação Atrial/diagnóstico , Fibrilação Atrial/tratamento farmacológico , Gerenciamento Clínico , Eletrocardiografia , Eletrocardiografia Ambulatorial , Humanos , Acidente Vascular Cerebral/etiologia , Acidente Vascular Cerebral/prevenção & controle
13.
Chem Rev ; 119(6): 3510-3673, 2019 03 27.
Artigo em Inglês | MEDLINE | ID: mdl-30830758

RESUMO

In the last few decades, pharmaceuticals, credited with saving millions of lives, have emerged as a new class of environmental contaminant. These compounds can have both chronic and acute harmful effects on natural flora and fauna. The presence of pharmaceutical contaminants in ground waters, surface waters (lakes, rivers, and streams), sea water, wastewater treatment plants (influents and effluents), soils, and sludges has been well doccumented. A range of methods including oxidation, photolysis, UV-degradation, nanofiltration, reverse osmosis, and adsorption has been used for their remediation from aqueous systems. Many methods have been commercially limited by toxic sludge generation, incomplete removal, high capital and operating costs, and the need for skilled operating and maintenance personnel. Adsorption technologies are a low-cost alternative, easily used in developing countries where there is a dearth of advanced technologies, skilled personnel, and available capital, and adsorption appears to be the most broadly feasible pharmaceutical removal method. Adsorption remediation methods are easily integrated with wastewater treatment plants (WWTPs). Herein, we have reviewed the literature (1990-2018) illustrating the rising environmental pharmaceutical contamination concerns as well as remediation efforts emphasizing adsorption.


Assuntos
Recuperação e Remediação Ambiental/métodos , Preparações Farmacêuticas/isolamento & purificação , Poluentes Químicos da Água/isolamento & purificação , Purificação da Água/métodos , Animais , Tratamento Farmacológico/estatística & dados numéricos , Água Subterrânea , Humanos , Preparações Farmacêuticas/administração & dosagem , Preparações Farmacêuticas/química , Poluentes Químicos da Água/química , Poluição Química da Água/estatística & dados numéricos
14.
Hematology ; 24(1): 349-352, 2019 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-30777489

RESUMO

INTRODUCTION: In sickle cell disease (SCD) patients, among the predictors of survival, HbF levels play a significant role in lowering the morbidity and mortality. Coinheritance of 뫧 thalassemia and hereditary persistence of fetal hemoglobin (HPFH) may contribute to variable HbF levels in SCD patients, thus influencing their clinicopathological profile. Such cases are sparsely documented in the literature and thus, we screened the presence of 뫧 thalassemia and HPFH in 126 cases of SCD with high HbF. MATERIAL AND METHODS: A total 126 SCD individuals with raised HbF levels were the study subject. Capillary zone electrophoresis (CZE) was done for the quantitative assessment of hemoglobin variants. HbSC, HbSD, HbAS and HbSE cases were excluded. Asian Indian Gγ(Aγδß)0-thal, δß0-thal (Sicilian, 13.4 kb), (Chinese, 100 kb), HPFH-1 (Black, 106 kb), HPFH-2 (Ghanaian, 105 kb), HPFH-3 (Indian, 48.5 kb) were done by GAP-PCR. RESULTS: Out of 126, 78 cases (62%) were homozygous for SCD. The remaining 48 cases suspected to be heterozygous were furthered screened and 6/48 cases (12.5%) were found to be compound heterozygous. Out of these 6 cases,4(66.66%) had HbS/ δß- Gγ(Aγδß)0 and 2(33%) had HbS/HPFH compound heterozygous condition. None of the patients had δß0-thal (Sicilian, 13.4 kb), (Chinese, 100 kb), HPFH-1 (Black, 106 kb), HPFH-2 (Ghanaian, 105 kb). CONCLUSION: This study highlights the importance of understanding the complex patho-physiology of compound heterozygous cases of HbS/HPFH and HbS/뫧 thalassemia, as these infrequent conditions lead to change in phenotype and clinical severity of the disease. Insight into more such cases will open the window to better analyze the disease pathogenesis in these rare compound heterozygous conditions, as this will be beneficial to formulate proper management protocol in these patients.


Assuntos
Anemia Falciforme , Hemoglobina Fetal , Hemoglobinas Anormais , Heterozigoto , Talassemia beta , Talassemia delta , Adolescente , Adulto , Anemia Falciforme/sangue , Anemia Falciforme/genética , Criança , Feminino , Hemoglobina Fetal/genética , Hemoglobina Fetal/metabolismo , Hemoglobinas Anormais/genética , Hemoglobinas Anormais/metabolismo , Humanos , Índia , Masculino , Talassemia beta/sangue , Talassemia beta/genética , Talassemia delta/sangue , Talassemia delta/genética
15.
J Pak Med Assoc ; 69(7): 1052-1054, 2019 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-31983747

RESUMO

Familial hypercholesterolaemia (FH) is a common disorder of lipid metabolism. However, it is rarely diagnosed in time, leading to a high burden of preventable cardiovascular (CV) morbidity. The authors describe a lipophenotypic screening tool, which can be used by clinicians to screen for FH. This simple construct is based on history, physical examination, lipid profile and non-invasive cardioimaging. Structured as a bidirectional three column rubric, this tool should be able to improve clinical skills and teaching related to FH.


Assuntos
LDL-Colesterol/sangue , Hiperlipoproteinemia Tipo II/diagnóstico , Adulto , Biomarcadores/sangue , Doença da Artéria Coronariana/prevenção & controle , Diagnóstico Precoce , Humanos , Hiperlipoproteinemia Tipo II/sangue , Pessoa de Meia-Idade , Fenótipo
16.
Hematology ; 23(10): 833-838, 2018 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-29890913

RESUMO

OBJECTIVES: To evaluate the association of interleukin 6 (IL-6) levels with deep vein thrombosis (DVT) and to assess the impact of IL-6 promoter polymorphisms (-174G > C, -572G > C and -597G > A) on its plasma levels and their influence in the development of DVT in India. METHODS: One hundred DVT patients and 100 age and sex-matched healthy controls were study subjects. IL-6 polymorphisms were identified by polymerase chain reaction-restriction fragment length polymorphism. IL-6 levels were detected by enzyme-linked immunosorbent assay. RESULTS: Significantly raised IL-6 levels were observed in patients as compared to controls. (Patients: 13.73 ± 6.30 pg/ml, Controls: 11.83 ± 4.47 pg/ml, p = 0.014). The prevalence of C allele of -572G > C polymorphism was significantly higher in patients than controls (Patients: 39.5%, Controls: 27.5%, p = 0.011, χ2=6.463). Subjects with GC and CC genotype had significantly higher IL-6 levels than GG genotype (p=<0.001). Patients with GC and CC genotype increased the DVT risk by 1.39 fold (ORa: 1.39, CI: 0.74-2.62) and 2.69 fold (ORa: 2.42, CI: 1.08-6.70), respectively. IL-6 -174G > C and -597G > A polymorphisms were not associated with raised IL-6 levels and nor with thrombotic risk (-174G > C: p = 0.823 χ2=0.369; -597G > A: p = 0.678 χ2=1.08). CONCLUSION: Our study emphasizes the importance of -572G > C polymorphism in increasing IL-6 levels, thereby showing its significant role in DVT in India. IL-6 -174G > C and -597G > A were neither associated with raised plasma IL-6 levels nor with thrombotic risk. Thus -572G > C polymorphism detection may be one of the connecting links between IL-6 and thrombotic risk in Indian DVT patients.


Assuntos
Genótipo , Interleucina-6 , Polimorfismo Genético , Regiões Promotoras Genéticas , Trombose Venosa , Adulto , Feminino , Humanos , Índia , Interleucina-6/sangue , Interleucina-6/genética , Masculino , Pessoa de Meia-Idade , Trombose Venosa/sangue , Trombose Venosa/genética
17.
J Thromb Thrombolysis ; 46(1): 88-94, 2018 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-29789989

RESUMO

Deep vein thrombosis (DVT) is multifactorial disorder and well known to cause substantial morbidity and mortality. There is sparse data in the Asian population, particularly India regarding association of tissue factor (TF) gene single nucleotide polymorphisms (SNPs) with plasma TF levels in DVT. So, we analyzed the distribution of SNPs (603A>G and 5466A>G) in India, to evaluate their effect on TF levels in DVT patients. Plasma level and SNPs (603A>G and 5466A>G) of TF gene were screened in subjects (100 DVT patients and 100 controls). Patients had significantly higher TF levels than controls (patients: 84.95 ± 17.16 pg/ml, controls: 70.55 ± 15.87 pg/ml, p < 0.001). G allele of 603A>G polymorphism was significantly higher in patients than controls (patients: 40.5% controls: 27.5%, p = 0.004). Subjects with AG and GG genotype had significantly higher TF levels than AA genotype (p = 0.001). After multiple logistic regression analysis, risk of DVT was increased 1.398 fold (95% CI 0.738-2.651) and 4.41 fold (95% CI 1.404-13.884) with AG and GG genotype respectively. Allelic and genotypic frequencies of 5466A>G polymorphism was neither associated with TF levels nor with DVT. We found high TF level in patients with TF 603A>G polymorphism, which is an important predisposing factor in increasing risk of DVT in young Indians. Furthermore, GG genotype of 603A>G polymorphism augments the risk of thrombosis by 4.4 fold, thus highlighting the significance of this polymorphism in the development of DVT. So, we suggest that inclusion of 603A>G polymorphism in prothrombotic work-up may be helpful in making the treatment strategy in DVT patients.


Assuntos
Polimorfismo de Nucleotídeo Único , Tromboplastina/genética , Trombose Venosa/genética , Estudos de Casos e Controles , Predisposição Genética para Doença , Genótipo , Humanos , Índia/epidemiologia , Risco , Tromboplastina/análise
18.
Hematology ; 23(9): 692-696, 2018 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-29621931

RESUMO

BACKGROUND AND OBJECTIVES: Coinheritance of 뫧 thalassemia and HPFH with inherited factors is sparsely documented and may affect treatment modalities. So, we screened the presence of α deletion and ß mutations in 뫧 thalassemia and HPFH disorders in 52 cases with high Hb F concentration. MATERIAL AND METHODS: Fifty-two individuals with raised HbF levels were study subjects. CZE was done for quantitative assessment of hemoglobin variants. Asian Indian inversion deletion break point type A, B and HPFH-3 were done by GAP-PCR. RESULTS: 18/52 cases of 뫧 Gγ (Aγδß)0 thalassemia and 28/52 cases of HPFH-3 deletion were characterized. 6/52 patients with raised HbF levels were negative for 뫧 Gγ (Aγδß)0 and HPFH-3 deletion. 9/18 (50%) were heterozygous for Gγ(Aγδß)0 break point type A, 6/18 (33%) were heterozygous for break point type B and 3/18 (17%) were homozygous. Of the nine patients heterozygous for Gγ(Aγδß)0 break point type A, three (33%) patients were double heterozygous with alpha 3.7 kb deletion and two (22%) patients showed compound heterozygosity with IVS 1-5(G-C) mutation. 4/9 (45%) patients were Gγ(Aγδß)0 heterozygous. DISCUSSION AND CONCLUSION: We found 5/18(27.ß) δß-thalassemia cases with co-inherited alpha 3.7 deletion and 3/18 (16ß) cases with IVS 1-5(G-C) mutation. Patients showed features of thalassemia intermedia phenotype among which those with co-inherited IVS 1-5(G-C) mutation showed severe phenotype as compared to those with co-inherited alpha 3.7 deletion. So, we highlight importance of genotyping of patients with 뫧 thalassemia or HPFH and coinheritance with inherited factors which plays crucial role in clinicopathological profile and setting up prenatal diagnostic protocol.


Assuntos
Hemoglobina Fetal/genética , Heterozigoto , Mutação , Talassemia beta/genética , Talassemia delta/genética , Adolescente , Adulto , Feminino , Humanos , Masculino , Talassemia beta/epidemiologia , Talassemia delta/epidemiologia
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