Key result
A male patient with compound heterozygosity for Hb Taybe developed recurrent priapism and a pontine infarction, likely exacerbated by splenectomy and a prothrombin G20210A mutation.
Case Report (n=1)
This case report highlights a potential thrombotic tendency in a patient with Hb Taybe, exacerbated by splenectomy and a prothrombin G20210A mutation.
Answers are grounded in this paper and cite their sources.
Hb Taybe with splenectomy and prothrombin G20210A may confer thrombotic risk; hypothesis-generating and should not yet change practice.
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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Juul et al. (2012) conducted a case report in Hb Taybe, ischemic stroke, and priapism (n=1). Compound heterozygosity for Hb Taybe, splenectomy, and prothrombin G20210A mutation was evaluated on Thrombotic events (ischemic stroke and priapism). A male patient with compound heterozygosity for Hb Taybe developed recurrent priapism and a pontine infarction, likely exacerbated by splenectomy and a prothrombin G20210A mutation.
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