Old and new insights into the diagnosis of hereditary spherocytosis

Ciepiela, Olga

doi:10.21037/atm.2018.07.35

Cited by 34 publications

(36 citation statements)

References 81 publications

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“…[12][13][14][15]30 However, hereditary spherocytosis in the blood donors is estimated through the prevalence with increased osmotic RBC fragility, which may not be accurate. 14,15,29,31 Despite these limitations in estimates, our prevalence for the youngest stratum (<20 years) could indicate that the HS prevalence in the population is approximately 1/2000.…”

Section: Prevalencementioning

confidence: 80%

“…As the hereditary spherocytosis, in general, is considered rare and nearly endemic to northern Europe, the increase is probably driven by improved and intensified diagnostics, rather than a true increase in population prevalence. 9,12,29 The prevalence of hereditary spherocytosis continues to rise, probably reflecting that in this group of congenital RBC disorders, a group of patients remain undiagnosed in the population.…”

Section: Prevalencementioning

confidence: 99%

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<p>Prevalence of Congenital Hemolytic Disorders in Denmark, 2000–2016</p>

Hansen¹,

Glenthøj²,

Möller³

et al. 2020

CLEP

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Background: Congenital red blood cell (RBC) disorders, such as hemoglobinopathies, are frequent worldwide but with large geographical variation. Growing migration has increased the number of patients with RBC disorders in formerly low prevalence countries, eg, Denmark. However, accurate prevalences are unknown. Methods: Patients with a registered diagnosis of congenital hemolysis in the Danish National Patient Register between 1977 and 2016 were linked to a national laboratory database of RBC disorders and the Danish civil registration system. We calculate annual age-and sex-specific prevalences of the congenital hemolytic disorders from 2000 to 2016. Results: Prevalences of all subtypes of congenital hemolytic disorders increased during the study period. The prevalence of hereditary spherocytosis increased 1.73 times between 2000 and 2015, from 10.2/10 5 persons to 17.7/10 5 persons. Alpha thalassemia trait had a prevalence of 0.5/ 10 5 persons in 2000, but increased 41 times to 19.2/10 5 persons in 2015. Beta thalassemia minor increased eightfold from 4.5/10 5 persons in 2000 to 34.9/10 5 persons in 2015. Likewise, sickle cell trait increased 11 times from 0.7/10 5 persons in 2000 to 8.1/10 5 persons in 2015, whereas sickle cell disease increased from 0.5/10 5 persons to 2.7/10 5 persons in 2015, a fivefold increase. Conclusion: The prevalence of congenital RBC disorders in Denmark is increasing. The hemoglobinopathy traits now have prevalences as high as hereditary spherocytosis. These estimates of congenital hemolytic disorders in Denmark emphasize that inborn hemoglobin disorders are a public health concern, even in some formerly low prevalence countries.

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Section: Prevalencementioning

confidence: 80%

Section: Prevalencementioning

confidence: 99%

<p>Prevalence of Congenital Hemolytic Disorders in Denmark, 2000–2016</p>

Hansen¹,

Glenthøj²,

Möller³

et al. 2020

CLEP

View full text Add to dashboard Cite

show abstract

“…1 Genetic mutations in plasma membrane proteins result in an unstable red blood cell membrane-cytoskeleton interaction resulting in higher risk for hemolysis triggered by stressors including fever, hypoxia, or viral infection. [1][2][3] Splenic clearance of damaged red blood cells results in anemia, thus patients are treated with supportive transfusions or splenectomy in severely affected patients. 4,5 The novel virus, severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), which causes coronavirus disease 2019 (COVID-19), emerged in Wuhan province in China in December 2019 and has affected over 7 million people globally as of June 2020.…”

Section: Covid-19 and Hereditary Spherocytosis: A Recipe For Hemolysismentioning

confidence: 99%

“…Tyler S. Severance 1,2,3 Mahvish Q. Rahim 1,2,3 James French II 1,2,3 Richelle M. Baker 1,2,4 Andrew Shriner 1,2,4 Alka Khaitan 1,2,5 Kathleen M.…”

Section: Conflict Of Interestunclassified

COVID‐19 and hereditary spherocytosis: A recipe for hemolysis

Severance

Rahim

French

et al. 2020

Pediatric Blood & Cancer

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“…Hereditary spherocytosis is a form of hemolytic anemia that is characterized by increased RBC fragility due to a number of known genetic mutations in RBC plasma membrane proteins [1]. Clinical presentation is variable, ranging from a lack of symptoms to jaundice, severe anemia requiring transfusion and/or splenectomy, gallstones, and aplastic crises in the setting of viral infections [2].…”

mentioning

confidence: 99%

Hereditary Spherocytosis Presenting as Diffuse Bone Marrow Activation and Splenomegaly on PSMA-Targeted 18F-DCFPyL PET/CT

Gomez¹,

Tran

Pienta

et al. 2019

Clin Nucl Med

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We present the case of a 71-year-old man with Gleason 3+3=6 pT2N0MxR0 adenocarcinoma of the prostate who presented with rising PSA level sixteen years following radical prostatectomy. PSMA-targeted 18 F-DCFPyL PET/CT was performed, which demonstrated recurrent disease in the prostatectomy bed as well as splenomegaly and mild-diffuse bone marrow activation, consistent with the patient's history of hereditary spherocytosis. We briefly review the clinical characteristics of hereditary spherocytosis, its appearance on molecular imaging studies, the normal biodistribution of 18 F-DCFPyL, and the PSMA-RADS scoring system for characterizing findings on PSMA-targeted PET imaging.

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Old and new insights into the diagnosis of hereditary spherocytosis

Cited by 34 publications

References 81 publications

<p>Prevalence of Congenital Hemolytic Disorders in Denmark, 2000–2016</p>

<p>Prevalence of Congenital Hemolytic Disorders in Denmark, 2000–2016</p>

COVID‐19 and hereditary spherocytosis: A recipe for hemolysis

Hereditary Spherocytosis Presenting as Diffuse Bone Marrow Activation and Splenomegaly on PSMA-Targeted 18F-DCFPyL PET/CT

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