A case study exploring the impact on family life of two genetic conditions – severe haemophilia A and sickle cell disease

Phillott, Anica

doi:10.17225/jhp00129

Cited by 1 publication

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References 8 publications

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“…The association of rare comorbidities can further hamper the diagnosis. On extremely rare occasions, the coexistence of hemophilia and sickle cell disease has been reported [ 6 ]. Sickle cell disease is an inherited blood disorder that manifests as painful vaso-occlusive crises.…”

Section: Introductionmentioning

confidence: 99%

Cardiovascular Risk Factors in Patients with Congenital Hemophilia: A Focus on Hypertension

et al. 2022

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Aging hemophiliacs face cardiovascular disease. Lots of evidence has been gathered that hemophiliacs have a more unfavorable cardiovascular profile than the general population does, especially due to the increased prevalence of hypertension (HTN). Among the existing scattered evidence, our study provides the most comprehensive and systematized analysis of the determinants of HTN in hemophiliacs. We discussed the contribution to the HTN substrate of hemophilia-specific factors, such as type, severity and the presence of inhibitors. The complex mechanism of kidney dysfunction in relation to hematuria and viral infections was meticulously addressed. Furthermore, we highlighted the new pathogenic concepts of endothelial dysfunction and the association between HTN and hemophilic arthropathy. The clustering of cardiovascular risk factors is common in hemophiliacs, and it enhances the negative vascular effect of HTN and aggravates HTN. It usually leads to an increased risk for coronary and cerebrovascular events. Our work provides reliable evidence to guide and improve the management of HTN in hemophiliacs.

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Section: Introductionmentioning

confidence: 99%

Cardiovascular Risk Factors in Patients with Congenital Hemophilia: A Focus on Hypertension

et al. 2022

View full text Add to dashboard Cite

show abstract

A case study exploring the impact on family life of two genetic conditions – severe haemophilia A and sickle cell disease

Abstract: Sickle cell disease and haemophilia are rare inherited disorders that require intensive management. Few cases of people with both disorders have been reported. This case study describes the impact of living with these disorders and coping with their management on a boy and his mother.

Cited by 1 publication

References 8 publications

Cardiovascular Risk Factors in Patients with Congenital Hemophilia: A Focus on Hypertension

Cardiovascular Risk Factors in Patients with Congenital Hemophilia: A Focus on Hypertension

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