scholarly journals Hemarthrosis in hemoglobin E beta thalassemia: a rare clinical scenario

2020 ◽  
Vol 7 (10) ◽  
pp. 1582
Author(s):  
Malini Garg ◽  
Prakas K. Mandal ◽  
Prakash S. Shekhawat ◽  
Tuphan K. Dolai
Keyword(s):  
Hip Joint ◽  
Rare Case ◽  
Beta Thalassemia ◽  
Clinical Scenario ◽  
Thalassemia Patient ◽  
Hemoglobin E ◽  
Beta Thalassaemia ◽  
Bilateral Knee ◽  
Joint Effusions

Hemorrhagic joint effusions are rarely seen in patients with haemoglobinopathies. Joint effusions often develop in association with deferiprone-related arthropathy in beta thalassaemia patients. Here we report a very rare case of bilateral knee and hip joint effusions in a case of hemoglobin E (HbE) beta thalassemia patient.

scholarly journals TALASEMIA BETA HEMOGLOBIN E (Hemoglobin E Beta Thalassemia)

2018 ◽  
Vol 21 (3) ◽  
pp. 309
Author(s):  
Viviyanti Zainuddin ◽  
Agus Alim Abdullah ◽  
Mansyur Arif
Keyword(s):  
Laboratory Tests ◽  
Clinical Manifestations ◽  
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 orabsence of synthesis of one or more globin polypeptide chains. Hemoglobin variant is a qualitative abnormality due to the presence ofthe abnormal amino acid sequence of one or more globin polypeptide chains. HbE β thalassemia is a disorder of hemoglobin that resultsfrom the fusion between the gene β-thalassemia allele from one parent with a gene HbE allele from another parent. In this case, HbEβ-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: 33.5g/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 falsehigh due to coeluating with HbE. The patient was treated by blood transfusion and received additional therapy such as folic acid, ironchelation and vitamin E.

scholarly journals A Rare Case of Hemoglobin E/Beta-Thalassemia and Systemic Lupus Erythematosus

Cureus ◽  
2020 ◽  
Author(s):  
Ibrahim Khamees ◽  
Ibrahim Mohammad Obeidat ◽  
Waail Rozi ◽  
Mohamed A Yassin
Keyword(s):  
Systemic Lupus Erythematosus ◽  
Lupus Erythematosus ◽  
Rare Case ◽  
Beta Thalassemia ◽  
Systemic Lupus ◽  
Hemoglobin E

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 One-step genetic correction of hemoglobin E/beta-thalassemia patient-derived iPSCs by the CRISPR/Cas9 system

2018 ◽  
Vol 9 (1) ◽  
Author(s):  
Methichit Wattanapanitch ◽  
Nattaya Damkham ◽  
Ponthip Potirat ◽  
Kongtana Trakarnsanga ◽  
Montira Janan ◽  
...  
Keyword(s):  
Beta Thalassemia ◽  
Thalassemia Patient ◽  
Hemoglobin E ◽  
One Step

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

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 Phenylketonuria and juvenile idiopathic arthritis: a case report

2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Ting Ting Zhu ◽  
Jin Wu ◽  
Li Yuan Wang ◽  
Xiao Mei Sun
Keyword(s):  
Juvenile Idiopathic Arthritis ◽  
Case Report ◽  
Autoimmune Diseases ◽  
Hip Joint ◽  
Metabolic Disorder ◽  
Rare Case ◽  
Molecular Data ◽  
Methotrexate Therapy ◽  
Case Presentation

Abstract Background Phenylketonuria (PKU) is a genetic metabolic disorder in which patients have no ability to convert phenylalanine to tyrosine. Several autoimmune diseases have been reported to combine with PKU, co-existent of PKU and Juvenile Idiopathic Arthritis (JIA) has not been presented. Case presentation The girl was diagnosed with PKU at the age of 1 month confirmed by molecular data. At the age of 3.5 years, she presented with pain and swelling of her right ankle, right knee, and right hip joint. After a serial of examinations, she was diagnosed with JIA and treated with a nonsteroidal anti-inflammatory drug. Conclusions We report a rare case of a 4-year-old girl with PKU and JIA, which supports a possible interaction between PKU and JIA. Long-term metabolic disturbance may increase the susceptibility to JIA. Further chronic inflammation could alter the metabolism of tryptophan and tyrosine to increase blood Phe concentration. In addition, corticosteroid and methotrexate therapy for JIA may increase blood Phe concentration.

scholarly journals Benefits of chronic blood transfusion in hemoglobin E/β thalassemia with pulmonary arterial hypertension

2014 ◽  
pp. 411 ◽  
Author(s):  
Nonlawan Chueamuangphan ◽  
Jayanton Patumanond ◽  
Wattana Wongtheptien ◽  
Weerasak Nawarawong ◽  
Apichard Sukornthasarn ◽  
...  
Keyword(s):  
Pulmonary Arterial Hypertension ◽  
Blood Transfusion ◽  
Arterial Hypertension ◽  
Beta Thalassemia ◽  
Hemoglobin E ◽  
Pulmonary Arterial

scholarly journals Gingival enlargement in thalassemia patient – A Conjectural Association

2020 ◽  
Vol 6 (3) ◽  
pp. 74-77
Author(s):  
CS BAIJU ◽  
Gunjan Gupta ◽  
Karuna Joshi ◽  
Shagufta ◽  
N.D Gupta
Keyword(s):  
Single Gene ◽  
Thalassemia Major ◽  
Beta Thalassemia ◽  
Thalassemia Patient ◽  
Anterior Maxilla ◽  
Facial Region ◽  
Periodontal Tissues ◽  
Beta Thalassemia Major ◽  
Gingival Enlargement ◽  
Maxilla And Mandible

Thalassemia is a single gene inherited blood disease. Beta thalassemia major is life threating. It causes abnormality in various organs and oral-facial region. Thalassemia patients are immune-deficient because of iron-overload. Immune system abnormality includes neutrophilic dysfunction and impairment of phagocytosis by the monocyte-macrophage system. Iron accumulation also affects periodontal tissues, which seems to increase the level of cytokines and thus have an enhancing effect on gingival inflammation. This article highlights a peculiar case of gingival enlargement in anterior maxilla and mandible. The patient was known case of a beta-thalassemia major. Blood investigation revealed a lower level of hemoglobin. The patient underwent non-surgical periodontal therapy. Proper periodontal care improves the quality of life in these patients. This case report reinforces the significance of proper history taking with all minor details and the role of patient education in phase I therapy

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