THROMBOTIC EVENTS IN COMPOUND HETEROZYGOTES FOR A HIGH AFFINITY HEMOGLOBIN VARIANT: Hb MILLEDGEVILLE [<b>α</b>44(CE2)Pro→Leu (<b>α</b>2)] AND FACTOR V LEIDEN

Hanss, Michel; Lacan, Philippe; Aubry, Marc; Lienhard, Anne; Francina, Alain

doi:10.1081/hem-120015032

Cited by 11 publications

(10 citation statements)

References 15 publications

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“…Hyperviscosity symptoms and thromboembolic episodes have been reported (Fairbanks et al , 1971; Weatherall et al , 1977). In some families, thrombotic episodes have been confined to individuals who are compound heterozygotes for both a high oxygen affinity haemoglobin and a thrombophilic defect (Berruyer et al , 1994; Hanss et al , 2002). Individuals with dizziness, dyspnoea or angina may derive clinical benefit from venesection (Fairbanks et al , 1971; Grace et al , 1992).…”

Section: High Oxygen Affinity Haemoglobinsmentioning

confidence: 99%

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Guidelines for the diagnosis, investigation and management of polycythaemia/erythrocytosis

et al. 2005

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Section: High Oxygen Affinity Haemoglobinsmentioning

confidence: 99%

“…In some families, thrombotic episodes have been confined to individuals who are compound heterozygotes for both a high oxygen affinity haemoglobin and a thrombophilic defect (Berruyer et al , 1994; Hanss et al , 2002).…”

Section: High Oxygen Affinity Haemoglobinsmentioning

confidence: 99%

Guidelines for the diagnosis, investigation and management of polycythaemia/erythrocytosis

et al. 2005

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“…In contrast, those with both abnormalities all had thrombotic events at a young age. There are a few other case reports of patients with high oxygen affinity Hbs who have developed thromboses, but again, this may simply be coincidental findings (18,31,32). High affinity oxygen Hbs that are due to a mutation on α-globin gene will cause both high affinity fetal and high affinity adult Hb but those due to a mutation in the β gene will only cause a high affinity adult Hb.…”

Section: Discussionmentioning

confidence: 89%

Secondary Erythrocytosis Due to Compound Homozygosity, but not Compound Heterozygosity, for Hb Luton and α-Thalassemia: A Family Study

et al. 2012

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We describe the hematological and clinical features of homozygous Hb Luton (OMIM 141800.0172), a high affinity α-globin variant that has not been previously described in the homozygous state. The proband was found to have a high hemoglobin (Hb) concentration following a routine blood count prior to a planned appendectomy at the age of 16 years. Investigation showed that she was homozygous for both Hb Luton [α89(FG1)His→Leu (CAC>CTC), a high oxygen affinity Hb)] and homozygous for α(+)-thalassemia (α(+)-thal), while her mother, maternal aunt and half-brother were heterozygous for these conditions. Further investigation showed that she also had Gilbert's disease and Raynaud's syndrome. As far as we are aware, this is also the first reported family with a subject homozygous for both Hb Luton and α-thal so that the proband has no nomal α-globin. The parents of the proband are first cousins and originate from Pakistan.

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“…Thrombosis is another risk due to high viscosity, but this complication has been very rare in high oxygen affinity Hb variant patients. The only thrombotic episodes reported occurred in patients who had another thrombophilic condition, factor V Leiden in one (14), and inherited protein S deficiency (15) in the other three of four family members who carried both the protein S mutation and Hb Rainier [β145(HC2)Tyr!Cys (TAT>TGT)].…”

Section: Compound Heterozygosity For Hb Johnstown and Hb Lbwmentioning

confidence: 97%

Symptomatic Erythrocytosis Associated with a Compound Heterozygosity for Hb Lepore-Boston-Washington (δ87-β116) and Hb Johnstown [β109(G11)Val→Leu,GTG>TTG]

et al. 2012

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Hb Johnstown [β109(G11)Val→Leu, GTG>TTG] has previously been described as a high oxygen affinity variant in a heterozygous state and in combination with β(0)-thalassemia (β(0)-thal). Because the variant does not separate from Hb A by routine methods it may be easily missed unless clinical suspicion is high. Hb Lepore-Boston-Washington (Hb LBW; δ87-β116) is a δβ hybrid variant that clinically manifests similarly to a β(+)-thal. Hb LBW is not detected by routine polymerase chain reaction (PCR) sequencing but is easily detected by electrophoretic methods. We describe a 19-year-old African American male with a compound heterozygosity for Hb Johnstown and Hb LBW. The patient presented with progressively worsening chest pains, headaches and erythrocytosis. He was repeatedly phlebotomized with symptomatic improvement and subsequently was confirmed to have the high oxygen affinity hemoglobin (Hb) variant. The lowest Hb and hematocrit (packed cell volume, PCV) achieved by phlebotomy was 16.1 g/dL and 0.51 L/L, respectively. Currently, he is no longer being phlebotomized, and is feeling relatively well except for minor chest pain. It is unclear to what degree the phlebotomies contributed to his subjective improvement. The combination of Hbs Johnstown and LBW has not been heretofore described, and in this case, was associated with marked symptomatic erythrocytosis. This unique combination results in a more pronounced phenotype, similar to or slightly more severe than, compound Hb Johnstown/β(0)-thal. This compound hemoglobinopathy will likely not be correctly classified using a single method of Hb detection and underscores the need for multiple characterization methods when indicated by the clinical picture.

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THROMBOTIC EVENTS IN COMPOUND HETEROZYGOTES FOR A HIGH AFFINITY HEMOGLOBIN VARIANT: Hb MILLEDGEVILLE [α44(CE2)Pro→Leu (α2)] AND FACTOR V LEIDEN

Cited by 11 publications

References 15 publications

Guidelines for the diagnosis, investigation and management of polycythaemia/erythrocytosis

Guidelines for the diagnosis, investigation and management of polycythaemia/erythrocytosis

Secondary Erythrocytosis Due to Compound Homozygosity, but not Compound Heterozygosity, for Hb Luton and α-Thalassemia: A Family Study

Symptomatic Erythrocytosis Associated with a Compound Heterozygosity for Hb Lepore-Boston-Washington (δ87-β116) and Hb Johnstown [β109(G11)Val→Leu,GTG>TTG]

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