Background: Sickle cell anemia is an inherited blood disorder caused due to a point mutation at the sixth codon of the ?-globin gene of both alleles. Sickle cell traits occur when the mutation is in one of the two alleles of the ?-globin genes. This study was carried out in the Tharu community, which is an indigenous and minority group mostly residing in the Terai region of Nepal. They are also considered as the most vulnerable group for inheriting Sickle cell anemia.
Methods: Purposive sampling, which included 130 Tharu individuals of Kanchanpur district of Nepal, was considered for the study. The survey was conducted using a descriptive questionnaire that contained relevant information including the family history of Sickle cell anemia. This was followed by the analysis of blood samples to determine the prevalence of Sickle cell anemia and Sickle cell traits. Primer-mediated enzymatic amplification of target sequences in genomic DNA followed by restriction endonuclease assay with an enzyme DdeI was carried out for the confirmation.
Results: Among 130 individuals, only 55.4% had basic knowledge about Sickle cell anemia. After screening for sickle cell anemia from 60 participants, 27 (45%) of them were found to be in the heterozygous state (carrier, Hb AS) and 28 (46.7%) were in the homozygous (normal, AA Hb) state with 5 (8.3%) having the diseased hemoglobin (Hb SS) variant of Sickle cell anemia.
Conclusions: This study demonstrated a high prevalence of Sickle cell anemia and Sickle cell traits in the Tharu community. This study may be beneficial for concerned personnel policymakers to reduce sickle cell cases by improving genetic literacy among the Tharu community.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.33314/jnhrc.v20i02.4158 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Basic Science and Pathogenesis.
Alzheimers Dement
December 2024
BITS Pilani Hyderabad Campus, Hyderabad, Telangana, India; RMIT, Melbourne, VIC, Australia.
Background: Myalgic encephalomyelitis (ME) or chronic fatigue syndrome (CFS) is categorized as a complicated disorder of extreme fatigue lasting for at least six months without any underlying medical problem and currently has no concrete treatment regimen. This is associated with neurological complications like brain fog, insomnia, psychiatric disturbances and above all neuroinflammation. A chronic forced swim test model of CFS has been established since more than a decade at our laboratory.
View Article and Find Full Text PDFCirculating biomarkers associated with pediatric sickle cell disease.
Front Mol Biosci
December 2024
Department of Microbiology, Biochemistry and Immunology, Morehouse School of Medicine, Atlanta, GA, United States.
Introduction: Sickle cell disease (SCD) is a genetic blood disorder caused by a mutation in the HBB gene, which encodes the beta-globin subunit of hemoglobin. This mutation leads to the production of abnormal hemoglobin S (HbS), causing red blood cells to deform into a sickle shape. These deformed cells can block blood flow, leading to complications like chronic hemolysis, anemia, severe pain episodes, and organ damage.
View Article and Find Full Text PDFThe Mortality of Adults With Sickle Cell Disease at a Comprehensive Sickle Cell Center.
Eur J Haematol
January 2025
Georgia Comprehensive Sickle Cell Center at Grady Health System, Emory University School of Medicine, Atlanta, Georgia, USA.
Introduction: Sickle cell disease (SCD) is the most common hemoglobinopathy in North America. The life expectancy of SCD has extended into adulthood with screenings, preventative care, and hydroxyurea. However, comorbidities arise as adults with SCD age, leading to early mortality.
View Article and Find Full Text PDFSystemic lupus erythematosus-associated autoantibodies in sickle cell disease: Spontaneous emergence in a patient and in transgenic sickle mice.
Br J Haematol
January 2025
Division of Nephrology, Department of Medicine, University of Illinois at Chicago, Chicago, Illinois, USA.
We describe a patient with sickle cell disease (SCD) and elevated antiphospholipid antibodies (aPL) who developed multi-organ failure resembling catastrophic antiphospholipid syndrome. Autoimmune screening revealed several autoantibodies characteristic of systemic lupus erythematosus (SLE). Notably, routinely housed and unmanipulated transgenic sickle mice displayed significantly elevated titres of aPL- and SLE-associated autoantibodies.
View Article and Find Full Text PDFPrenatal Exome Sequencing Identifies Dual Maternal-Fetal Diagnosis of HbF Mission Bay, a Novel HBG2 Variant Associated With Methemoglobinemia, Hypoxia and Hemolytic Anemia.
Prenat Diagn
January 2025
Department of Obstetrics, Gynecology, & Reproductive Sciences, University of California, San Francisco, California, USA.
Prenatal exome sequencing (ES) can establish rare genetic diagnoses in a fetus but may also lead to occult genetic diagnosis in a biological parent. We present a case of dual fetal and maternal diagnosis by prenatal ES, in a fetus with unexplained anemia and in a pregnant patient with sickle cell disease (SCD) and recurrent unexplained hypoxia. ES identified a novel, likely pathogenic gamma globin variant, HbF Mission Bay HBG2 (c.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!