Literature DB >> 36180738

Hemoglobin Beth Israel [HBB:c.308A>G (p.Asn103Ser)]: an ultra-rare, low oxygen-affinity, non-methemoglobinemic hemoglobin diagnosed on targeted resequencing as cause of dominantly inherited benign cyanosis.

Namrata Singh1, Manu Jamwal1, Ritika Sharma1, Pooja Murgai2, Sanjeev Chhabra1, Jasbir Kaur Hira1, Reena Das1, Prashant Sharma3.   

Abstract

Entities:  

Year:  2022        PMID: 36180738     DOI: 10.1007/s00277-022-04989-3

Source DB:  PubMed          Journal:  Ann Hematol        ISSN: 0939-5555            Impact factor:   4.030


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  6 in total

1.  HB Beth Israel (beta 102 [G4] Asn replaced by Ser) observed in a Yugoslavian teenager.

Authors:  G D Efremov; E Stojmirovic; H L Lam; J B Wilson; T H Huisman
Journal:  Hemoglobin       Date:  1978       Impact factor: 0.849

2.  Conformational studies of hemoglobins using intrinsic fluorescence measurements.

Authors:  R E Hirsch; R L Nagel
Journal:  J Biol Chem       Date:  1981-02-10       Impact factor: 5.157

3.  Preimplantation genetic diagnosis for hemoglobinopathies.

Authors:  Anver Kuliev; Tatiana Pakhalchuk; Oleg Verlinsky; Svetlana Rechitsky
Journal:  Hemoglobin       Date:  2011-09-12       Impact factor: 0.849

Review 4.  How we diagnose and manage altered oxygen affinity hemoglobin variants.

Authors:  Jovana Yudin; Madeleine Verhovsek
Journal:  Am J Hematol       Date:  2019-02-18       Impact factor: 10.047

5.  Hemoglobin Beth Israel. A mutant causing clinically apparent cyanosis.

Authors:  R L Nagel; J Lynfield; J Johnson; L Landau; R M Bookchin; M B Harris
Journal:  N Engl J Med       Date:  1976-07-15       Impact factor: 91.245

6.  Hemoglobin Kansas as a Rare Cause of Cyanosis: A Case Report and Review of the Literature.

Authors:  Yoshikuni Nagayama; Minoru Yoshida; Tadashi Kohyama; Katsuyuki Matsui
Journal:  Intern Med       Date:  2017-01-15       Impact factor: 1.271

  6 in total

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