Literature DB >> 33489176

Alpha-thalassemia. Case report alpha-thalassemia in a Costa Rican family, A case report.

Mariela Solano-Vargas1, David H K Chui2, Walter Rodriguez-Romero1.   

Abstract

This case report highlights the importance for health care providers to be aware of the αlpha-thalassemia syndromes, their relevance to clinical care and family counseling, appropriate diagnostic algorithm for definitive diagnosis.
© 2020 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd.

Entities:  

Keywords:  ( – – SEA/) deletion; Chinese ethnic; Gap‐PCR; alpha‐thalassemia; capillary electrophoresis

Year:  2020        PMID： 33489176      PMCID： PMC7813090          DOI： 10.1002/ccr3.3518

Source DB:  PubMed          Journal:  Clin Case Rep        ISSN： 2050-0904


  4 in total

1.  Improvements in the HbVar database of human hemoglobin variants and thalassemia mutations for population and sequence variation studies.

Authors:  George P Patrinos; Belinda Giardine; Cathy Riemer; Webb Miller; David H K Chui; Nicholas P Anagnou; Henri Wajcman; Ross C Hardison
Journal:  Nucleic Acids Res       Date:  2004-01-01       Impact factor: 16.971

Review 2.  Alpha-thalassaemia.

Authors:  Cornelis L Harteveld; Douglas R Higgs
Journal:  Orphanet J Rare Dis       Date:  2010-05-28       Impact factor: 4.123

3.  Validation of a reverse-hybridization StripAssay for the simultaneous analysis of common alpha-thalassemia point mutations and deletions.

Authors:  Helene Puehringer; Hossein Najmabadi; Hai-Yang Law; Walter Krugluger; Vip Viprakasit; Serge Pissard; Erol Baysal; Ali Taher; Chantal Farra; Amein Al-Ali; Suad Al-Ateeq; Christian Oberkanins
Journal:  Clin Chem Lab Med       Date:  2007       Impact factor: 3.694

Review 4.  The α-thalassemias.

Authors:  Frédéric B Piel; David J Weatherall
Journal:  N Engl J Med       Date:  2014-11-13       Impact factor: 91.245
  4 in total
  1 in total

1.  The need to perform α-thalassemia genetic testing in Italian patients with β-thalassemia trait: A case report.

Authors:  Graziano Santoro; Fabiana Cro; Federica Poma; Cristina Kullmann; Cristina Lapucci; Maurizio Ferrari
Journal:  Clin Case Rep       Date:  2022-09-19
  1 in total

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