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Wide spectrum of novel and rare hemoglobin variants in the multi-ethnic Indian population: A review.
Int J Lab Hematol
June 2024
Department of Haematogenetics, Indian Council of Medical Research-National Institute of Immunohaematology (ICMR-NIIH), Mumbai, India.
The hemoglobin (Hb) variants are qualitative abnormalities due to production of structurally abnormal globin proteins. They are categorized based on the type of mutation present in the α1, α2, β, Gγ, Aγ and δ globin genes. So far, more than 1550 Hb variants are reported in the database.
View Article and Find Full Text PDF[Abnormal hemoglobinopathy in Hb Titusville: a case report].
Zhonghua Xue Ye Xue Za Zhi
December 2023
Department of Clinical Laboratory, the Fifth Affiliated Hospital of Sun Yat-sen University, Zhuhai 519000, China.
Background: Normal hemoglobin is a tetrameric structure, consisting of two alpha-globin chains and two nonalpha (beta, gamma, delta) chains. Hemoglobinopathies occur when the presence of gene mutations affect the molecular structure or expression of the globin chains.
Methods: We reported the case of a 9-year-old Chinese girl who presented with abnormal low oxygen saturation values on pulse oximetry and no oximetry results were obtained during blood gas analysis (BGA).
First family case of haemoglobinopathy Titusville in France and literature overview.
J Clin Pathol
July 2019
Clinical Chemistry Laboratory, University Hospital of Nice, Nice, France.
Normal haemoglobin is a tetramer molecule, consisting of two α and β haemoglobin chains. Haemoglobinopathies occur when abnormalities in these proteins are present. More than 1000 naturally occurring human haemoglobin variants with single amino acid substitution throughout the molecule have been identified and can be discovered through their clinical and biological manifestations.
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