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

Maja Bech Juul, Hanne Vestergaard, Jesper Petersen, Henrik Frederiksen

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

Resumé

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.
OriginalsprogEngelsk
TidsskriftHemoglobin
Vol/bind36
Udgave nummer6
Sider (fra-til)600-4
Antal sider5
ISSN0363-0269
DOI
StatusUdgivet - 2012

Fingeraftryk

Globins
Prothrombin
Priapism
Genes
RNA Splice Sites
Mutation
Hemoglobins
Heterozygote
Hemolysis
Infarction
hemoglobin Taybe

Citer dette

Juul, Maja Bech ; Vestergaard, Hanne ; Petersen, Jesper ; Frederiksen, Henrik. / Thrombosis in Hb Taybe [codons 38/39 (-ACC) (α1)]. I: Hemoglobin. 2012 ; Bind 36, Nr. 6. s. 600-4.
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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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Thrombosis in Hb Taybe [codons 38/39 (-ACC) (α1)]. / Juul, Maja Bech; Vestergaard, Hanne; Petersen, Jesper; Frederiksen, Henrik.

I: Hemoglobin, Bind 36, Nr. 6, 2012, s. 600-4.

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

TY - JOUR

T1 - Thrombosis in Hb Taybe [codons 38/39 (-ACC) (α1)]

AU - Juul, Maja Bech

AU - Vestergaard, Hanne

AU - Petersen, Jesper

AU - Frederiksen, Henrik

PY - 2012

Y1 - 2012

N2 - 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.

AB - 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.

U2 - 10.3109/03630269.2012.746230

DO - 10.3109/03630269.2012.746230

M3 - Journal article

C2 - 23181750

VL - 36

SP - 600

EP - 604

JO - Hemoglobin

JF - Hemoglobin

SN - 0363-0269

IS - 6

ER -