Antenatal Screening for Haemoglobinopathies and Maternal Outcomes at a Rural Healthcare Facility in Piparia, Gujarat, India: A Prospective Cohort Study [PDF]
Journal of Clinical and Diagnostic ResearchIntroduction: Haemoglobinopathies are inherited genetic blood disorders caused by defects in the structure or production of haemoglobin. World Health Organisation (WHO) estimates that approximately 5% of the world’s population carries a gene for a ...
Mihir Kumar Bholodia, Nidhi Bhalodia
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eLife, 2022 Haemoglobinopathies are the commonest monogenic diseases worldwide and are caused by variants in the globin gene clusters. With over 2400 variants detected to date, their interpretation using the American College of Medical Genetics and Genomics (ACMG ...
Stella Tamana +16 more
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Orphanet Journal of Rare Diseases, 2021 Background Hydroxyurea is one of the earliest drugs that showed promise in the management of haemoglobinopathies that include β-thalassaemia and sickle cell disease.
Nirmani Yasara +2 more
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Incidence of Thalassaemia in Jammu and Kashmir, India [PDF]
National Journal of Laboratory Medicine, 2021 Introduction: Haemoglobinopathies are common genetic disorders of haemoglobin which occur due to abnormal production or structure of the haemoglobin molecule.
Roopali Jandial, Ishani Gupta
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Haemoglobinopathies, antenatal screening and the midwife. [PDF]
, 1996 Key Points Lack of national enforceable and funded standards for screening for the haemoglobinopathies means that a great deal of discretion is devolved to the individual midwife. Naive conceptions of ‘race’ and lack of knowledge of the range of ethnic
Dyson, Simon +2 more
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Combined Hereditary Spherocytosis and β-thalassemia trait: A Rare Co-existence [PDF]
Journal of Clinical and Diagnostic Research, 2018 Haemoglobinopathies are the commonest haemolytic disorders, prevalent in India and form a major bulk of patients in most of the haematology outpatient clinics.
Hanaganahalli Basavaiah Sridevi +4 more
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ROLE OF HAEMOGLOBINOPATHIES AND DUFFY ANTIGEN RECEPTOR FOR CHEMOKINES (DARC) IN MALARIA
The Bioscientist, 2022 Hemoglobinopathies are among the most common inherited diseases around the world. Over the years, there have been many studies which tried to assess and explain the role of various haemoglobinopathies and duffy antigen receptor for chemokines (DARC) in ...
Gideon Yakusak Benjamin +2 more
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Screening of haemoglobinopathies by high performance liquid chromatography and its molecular characterization using amplification refractory mutation system and direct DNA sequencing techniques among college students in central Gujarat [PDF]
Journal of Krishna Institute of Medical Sciences University, 2023 Background: Haemoglobinopathies are inherited blood disorders that can have significant health implications and are common in certain populations. Aim and Objectives: To investigate the prevalence of haemoglobinopathies among college students in central
Minal T, Hitesh S, Prakash P, Navneet S
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Haematopoietic stem cell transplantation in thalassaemia major: A narrative review
Advances in Human Biology, 2023 Thalassaemia constitutes an especially prevalent human monogenic illness caused by a lack of synthesis of the α- or β-globin chains. The clinical impact of β-thalassaemia is worse since it consists of the same pair gene configuration, thalassaemia major,
Rabeya Yousuf +3 more
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Plummer-Vinson syndrome in a 10-year-old boy from Côte d'Ivoire: An exceptional paediatric case with African context. [PDF]
JPGN RepAbstract Plummer–Vinson syndrome (PVS) is characterised by the triad of dysphagia, iron‐deficiency anaemia, and proximal oesophageal webs. While well described in adults, paediatric cases remain exceptionally rare, particularly in sub‐Saharan Africa.
Tayou Mbobda PM +2 more
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