دورية أكاديمية
أعرض في EDS

Hb Santa Juana ( β 108(G10) Asn > Ser): a low oxygen affinity hemoglobin variant in a family of Bosnian background.

التفاصيل البيبلوغرافية
العنوان: Hb Santa Juana ( β 108(G10) Asn > Ser): a low oxygen affinity hemoglobin variant in a family of Bosnian background.
المؤلفون: Wildenberg NP; Department of Pediatric Oncology, Hematology, and Immunology, University of Heidelberg, Heidelberg, Germany.; Hopp Children's Cancer Center Heidelberg (KiTZ), Heidelberg, Germany., Rossi C; Department of Pediatric Oncology, Hematology, and Immunology, University of Heidelberg, Heidelberg, Germany.; Hopp Children's Cancer Center Heidelberg (KiTZ), Heidelberg, Germany., Kulozik AE; Department of Pediatric Oncology, Hematology, and Immunology, University of Heidelberg, Heidelberg, Germany.; Hopp Children's Cancer Center Heidelberg (KiTZ), Heidelberg, Germany., Kunz JB; Department of Pediatric Oncology, Hematology, and Immunology, University of Heidelberg, Heidelberg, Germany.; Hopp Children's Cancer Center Heidelberg (KiTZ), Heidelberg, Germany.
المصدر: Hematology (Amsterdam, Netherlands) [Hematology] 2023 Dec; Vol. 28 (1), pp. 2184120.
نوع المنشور: Journal Article
اللغة: English
بيانات الدورية: Publisher: Taylor & Francis Country of Publication: England NLM ID: 9708388 Publication Model: Print Cited Medium: Internet ISSN: 1607-8454 (Electronic) Linking ISSN: 10245332 NLM ISO Abbreviation: Hematology Subsets: MEDLINE
أسماء مطبوعة: Publication: 2016- : Abingdon : Taylor & Francis
Original Publication: [Amsterdam] : Newark, NJ : Harwood Academic Publishers ; International Publishers Distributor,
مواضيع طبية MeSH: Hemoglobins* , Cyanosis*, Humans ; Chromatography, High Pressure Liquid ; Dyspnea ; Oxygen
مستخلص: We present a family that carries the β-hemoglobin variant Hb Santa Juana (HBB:c.326A>G, β 108(G10) Asn>Ser), also known as Hb Serres, in three generations. All affected family members had an anomal hemoglobin fraction as detected by HPLC but normal blood count without evidence of anemia or hemolysis. Oxygen affinity (p 50 (O 2 ) = 31.9-40.4 mmHg) was decreased in all probands, compared to 24.9-28.1 mmHg in unaffected individuals. Clinical symptoms likely related to the hemoglobin variant were cyanosis during anaesthesia, while other complaints such as shortness of breath or dizziness were less clearly linked with the hemoglobin variant.
فهرسة مساهمة: Keywords: Hemoglobin; hemoglobinopathy; oxygen affinity
المشرفين على المادة: 0 (Hemoglobins)
S88TT14065 (Oxygen)
تواريخ الأحداث: Date Created: 20230303 Date Completed: 20230307 Latest Revision: 20230307
رمز التحديث: 20231215
DOI: 10.1080/16078454.2023.2184120
PMID: 36867085
قاعدة البيانات: MEDLINE
الوصف
تدمد:1607-8454
DOI:10.1080/16078454.2023.2184120