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Background: Hemoglobinopathies and thalassemias are widely prevalent autosomal inherited recessive disorders of the structure and synthesis of hemoglobin, respectively. Given the regional heterogeneity of these disorders, this study was undertaken to elucidate the patterns and prevalence of these disorders from this region.
Methods: This was a tertiary-care hospital-based study in southern India over 4 years.
Presumptive Identification of Clinically Significant Hemoglobin Variants Hb E, Hb S, Hb D in Hb A1c Capillary Electrophoresis.
J Appl Lab Med
October 2024
R&D, Neuberg Anand Academy of Laboratory Medicine Pvt Ltd, Bengaluru, India.
Background: The quantitation of glycated hemoglobin (Hb A1c) represents an average blood glucose level for a period of 2 to 3 months for diagnosing, monitoring, and managing diabetes mellitus. Unreliable results are reported when hemoglobin (Hb) variants are present in the sample. Patients are advised to use an alternate method due to the presence of the variant Hb and a reflex test to Hb electrophoresis to obtain precise information about the Hb variant.
View Article and Find Full Text PDFCase report-unveiling a case of hemoglobin D-Punjab variant with iron deficiency anemia in Sindh (Pakistan).
SAGE Open Med Case Rep
August 2024
Department of Internal Medicine, Dow University of Health Sciences, Karachi, Pakistan.
Hemoglobin D variations are a group of hemoglobinopathies caused by mutations in the genes that control the synthesis of new globin chains. Hemoglobin D-Punjab is the most prevalent but frequently asymptomatic, it can occasionally cause mild to moderate hemolytic anemia, making diagnosis difficult and raising the risk of misdiagnosis. This article discusses a rare instance of a seventeen-year-old male in Sindh, Pakistan with iron deficiency anemia who was later found to have the Punjab variation of the hemoglobin D.
View Article and Find Full Text PDFA Unique Case of a Compound Heterozygosity of Hemoglobin Korle-Bu and Sickle Cell Trait in a Military Trainee.
J Hematol
June 2024
San Antonio United Services Health Education Consortium, Brooke Army Medical Center, Fort Sam Houston, TX 78234, USA.
Hemoglobin Korle-Bu (Hb KB) is a rare and likely under-reported hemoglobin (Hb) variant resulting from an unusual point mutation on the beta-globin chain. Hb KB is typically clinically silent, and there are limited reports of Hb KB heterozygosity compounded with other hemoglobinopathies that can present with varying clinical phenotypes. Here, we report a case of compound Hb KB heterozygosity with Hb S in an asymptomatic military trainee with a positive sickle cell screening test.
View Article and Find Full Text PDFClinical and Laboratory Features of Sickle Cell Disease S/D Punjab: Impact of HbF and Hydroxyurea.
Mediterr J Hematol Infect Dis
May 2024
Department of Haematology, Sultan Qaboos University Hospital, Muscat, Oman.
Background: Sickle cell disease (SCD) is a major public health issue worldwide with high morbidity and mortality. SCD SD Punjab is the third most common genotype of SCD in Oman and is associated with several serious complications. The aim of the study is to establish the clinical and laboratory features of SCD patients with SD double heterozygotes and study the impact of haemoglobin F, hydroxyurea, and other modulators on the disease severity.
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