دورية أكاديمية
أعرض في EDS

Analysis of the Haematological Phenotype and Molecular Characteristics of Rare Abnormal Haemoglobin.

التفاصيل البيبلوغرافية
العنوان: Analysis of the Haematological Phenotype and Molecular Characteristics of Rare Abnormal Haemoglobin.
المؤلفون: Ge Y; Department of Clinical Laboratory, Guangdong Provincial People's Hospital (Guangdong Academy of Medical Sciences), Southern Medical University, Guangzhou, Guangdong, China., Zheng G; Department of Clinical Laboratory, Guangdong Provincial People's Hospital (Guangdong Academy of Medical Sciences), Southern Medical University, Guangzhou, Guangdong, China.; KingMed School of Laboratory Medicine, Guangzhou Medical University, Guangzhou, Guangdong, China., Xian L; Department of Clinical Laboratory, Guangdong Provincial People's Hospital (Guangdong Academy of Medical Sciences), Southern Medical University, Guangzhou, Guangdong, China., Luo Y; Department of Clinical Laboratory, Guangdong Provincial People's Hospital (Guangdong Academy of Medical Sciences), Southern Medical University, Guangzhou, Guangdong, China., Liu J; Department of Clinical Laboratory, Guangdong Provincial People's Hospital (Guangdong Academy of Medical Sciences), Southern Medical University, Guangzhou, Guangdong, China., Lin T; Department of Clinical Laboratory, Guangdong Provincial People's Hospital (Guangdong Academy of Medical Sciences), Southern Medical University, Guangzhou, Guangdong, China., Cui W; Department of Clinical Laboratory, Guangdong Provincial People's Hospital (Guangdong Academy of Medical Sciences), Southern Medical University, Guangzhou, Guangdong, China., Yang Y; Department of Clinical Laboratory, Guangdong Provincial People's Hospital (Guangdong Academy of Medical Sciences), Southern Medical University, Guangzhou, Guangdong, China., Shan H; Department of Clinical Laboratory, Guangdong Provincial People's Hospital (Guangdong Academy of Medical Sciences), Southern Medical University, Guangzhou, Guangdong, China.
المصدر: Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2024 Sep; Vol. 12 (9), pp. e70012.
نوع المنشور: Journal Article
اللغة: English
بيانات الدورية: Publisher: John Wiley & Sons Country of Publication: United States NLM ID: 101603758 Publication Model: Print Cited Medium: Internet ISSN: 2324-9269 (Electronic) Linking ISSN: 23249269 NLM ISO Abbreviation: Mol Genet Genomic Med Subsets: MEDLINE
أسماء مطبوعة: Original Publication: [Hoboken, NJ] : John Wiley & Sons, [2013]-
مواضيع طبية MeSH: Hemoglobins, Abnormal*/genetics , Phenotype* , Hemoglobinopathies*/genetics , Hemoglobinopathies*/blood , Hemoglobinopathies*/epidemiology , Hemoglobinopathies*/diagnosis, Humans ; Male ; Female ; Adult ; Mutation ; Child ; Erythrocyte Indices ; China ; Adolescent ; Middle Aged
مستخلص: Background: Haemoglobinopathy refers to a group of common monogenic inherited conditions associated with variations in the haemoglobin molecule; however, there is relatively limited reporting on abnormal haemoglobinopathy in the Chinese population, especially rare abnormal haemoglobin (Hb). The aim of this study was to explore the clinical characteristics of haemoglobinopathy to supplement data for the epidemiological investigation of Hb variants in Guangdong province of China.
Methods: Peripheral blood was collected from five patients (including a family) for Complete blood count, Hb electrophoresis, High-performance liquid chromatography analysis and degenerative globin body testing. Hb variants were further analysed by PCR and DNA sequencing.
Results: The research subjects were diagnosed with different types of abnormal Hb. The blood routine of the Hb Fukuyama (HBB:c.232C>T) diagnosed individual showed microcytic hypochromic anaemia, with a lower Hb level (64 g/L), mean corpuscular volume (MCV) of 71.5 fL and mean corpuscular haemoglobin (MCH) of 21.5 pg. Individuals diagnosed with Hb Port Phillip (HBA2:c.275T>C) exhibit a MCH level that is slightly below average, at 26.4 pg. The Hb Saint Etienne (HBB:c.279C>G) diagnosed individual showed macrocytic hypochromic anaemia, and the proband had a low Hb level (116 g/L), MCV of 102.2 fL and MCH of 29.4 pg.
Conclusion: We confirmed the presence of Hb Fukuyama (HBB:c.232C>T) in China for the first time. Three rare patients with the Hb Saint Etienne (HBB:c.279C>G) phenotype and one patient with Hb Port Phillip (HBA2:c.275T>C) phenotype were included. Our research enriches the gene mutation map of haemoglobinopathy in Guangdong province and improves the detection system of haemoglobinopathy for population prevention and eugenics.
(© 2024 The Author(s). Molecular Genetics & Genomic Medicine published by Wiley Periodicals LLC.)
References: FEBS Lett. 1977 Sep 1;81(1):115-7. (PMID: 902765)
Br J Haematol. 2023 Jun;201(6):1047-1065. (PMID: 37271570)
Pediatr Int. 2000 Apr;42(2):160-3. (PMID: 10804732)
Hematology. 2022 Dec;27(1):150-156. (PMID: 35068381)
Blood Rev. 1993 Sep;7(3):146-63. (PMID: 8241830)
Hemoglobin. 1991;15(1-2):97-101. (PMID: 1917540)
Hemoglobin. 1988;12(4):391-4. (PMID: 3170240)
Mol Aspects Med. 2022 Apr;84:101028. (PMID: 34649720)
Hemoglobin. 1993 Aug;17(4):303-18. (PMID: 8226093)
Clin Appl Thromb Hemost. 2022 Jan-Dec;28:10760296221119807. (PMID: 35979587)
J Clin Invest. 1972 Sep;51(9):2380-7. (PMID: 4639022)
Acta Haematol. 2019;142(2):120-122. (PMID: 31112948)
Hemoglobin. 1991;15(4):331-3. (PMID: 1787102)
Hematology. 2022 Dec;27(1):258-262. (PMID: 35192774)
Sci Rep. 2019 Mar 5;9(1):3493. (PMID: 30837609)
Biomolecules. 2022 Nov 17;12(11):. (PMID: 36421721)
Hemoglobin. 2009;33(2):95-100. (PMID: 19373584)
Subcell Biochem. 2020;94:345-382. (PMID: 32189307)
Mol Genet Genomic Med. 2021 Sep;9(9):e1699. (PMID: 34398528)
Nucleic Acids Res. 2021 Jan 8;49(D1):D1192-D1196. (PMID: 33125055)
Bio Protoc. 2021 Jan 20;11(2):e3899. (PMID: 33732786)
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2021 Jan 10;38(1):12-14. (PMID: 33423249)
معلومات مُعتمدة: 82200118 National Natural Science Foundation of China; 2021A1515110860 Guangdong Basic and Applied Basic Research Foundation; KY0120220038 NSFC Incubation Project of Guangdong Provincial People's Hospital; 202102020151 Guangzhou Science and Technology Plan Project; 8227080423 NSFC Pilot Funds of Guangdong Provincial People's Hospital
فهرسة مساهمة: Keywords: Hb Fukuyama; Hb Port Phillip; Hb Saint Etienne; haemoglobin; haemoglobinopathy
المشرفين على المادة: 0 (Hemoglobins, Abnormal)
تواريخ الأحداث: Date Created: 20240912 Date Completed: 20240912 Latest Revision: 20240915
رمز التحديث: 20240915
مُعرف محوري في PubMed: PMC11391098
DOI: 10.1002/mgg3.70012
PMID: 39262298
قاعدة البيانات: MEDLINE
الوصف
تدمد:2324-9269
DOI:10.1002/mgg3.70012