Literature DB >> 23181750

Thrombosis in Hb Taybe [codons 38/39 (-ACC) (α1)].

Maja Bech Juul1, Hanne Vestergaard, Jesper Petersen, Henrik Frederiksen.   

Abstract

Hb Taybe is a highly unstable hemoglobin (Hb) variant caused by a 3 bp deletion at codons 38/39 (-ACC) on the α1-globin gene. We report for the first time, a patient with a compound heterozygosity for Hb Taybe and a 5 bp deletion at the splice donor site of IVS-I on the α2-globin gene and ischemic stroke and priapism. The patient, a male of Palestinian origin, suffered since childhood from moderate hemolytic anemia. Splenectomy was performed at the age of 19. Five years after the splenectomy, recurring attacks of priapism occurred and at the age of 28 the patient had a pontine infarction. A heterozygote prothrombin G20210A mutation was found. We assume that ongoing intravascular hemolysis, splenectomy and the prothrombin G20210A mutation may explain the thrombotic tendency in this case.

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Year:  2012        PMID: 23181750     DOI: 10.3109/03630269.2012.746230

Source DB:  PubMed          Journal:  Hemoglobin        ISSN: 0363-0269            Impact factor:   0.849


  2 in total

1.  Recommendations regarding splenectomy in hereditary hemolytic anemias.

Authors:  Achille Iolascon; Immacolata Andolfo; Wilma Barcellini; Francesco Corcione; Loïc Garçon; Lucia De Franceschi; Claudio Pignata; Giovanna Graziadei; Dagmar Pospisilova; David C Rees; Mariane de Montalembert; Stefano Rivella; Antonella Gambale; Roberta Russo; Leticia Ribeiro; Jules Vives-Corrons; Patricia Aguilar Martinez; Antonis Kattamis; Beatrice Gulbis; Maria Domenica Cappellini; Irene Roberts; Hannah Tamary
Journal:  Haematologica       Date:  2017-05-26       Impact factor: 9.941

2.  Splenectomy and emerging novel treatments in rare inherited hemolytic anemias.

Authors:  Joanne Yacobovich; Hannah Tamary
Journal:  Hemasphere       Date:  2019-06-30
  2 in total

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