2021
DOI: 10.1016/j.htct.2020.08.015
|View full text |Cite
|
Sign up to set email alerts
|

Duffy phenotyping and FY*B-67T/C genotyping as screening test for benign constitutional neutropenia

Abstract: Objective Low levels of neutrophils can be an intrinsic condition, with no clinical consequences or immunity impairment. This condition is the benign constitutional neutropenia (BCN), defined as an absolute neutrophils count (ANC) 2000 cells/mm. Diagnosis of BCN is of exclusion where patients are submitted to blood tests and possibly to invasive diagnostic search until secondary causes of neutropenia are ruled out. The natural history of the disease suggests benign evolution and Br… Show more

Help me understand this report

Search citation statements

Order By: Relevance

Paper Sections

Select...
2
2
1

Citation Types

0
7
0

Year Published

2021
2021
2024
2024

Publication Types

Select...
4
1

Relationship

0
5

Authors

Journals

citations
Cited by 5 publications
(7 citation statements)
references
References 16 publications
0
7
0
Order By: Relevance
“…Moreover, since molecular analysis for rs2814778 of Duffy-null phenotypes is not available in clinical laboratories, the Duffy phenotype could be utilized as a marker for identifying individuals with BEN. 33 In current clinical practice, the diagnosis of BEN depends on the exclusion of other causes of neutropenia.…”
Section: Discussionmentioning
confidence: 99%
“…Moreover, since molecular analysis for rs2814778 of Duffy-null phenotypes is not available in clinical laboratories, the Duffy phenotype could be utilized as a marker for identifying individuals with BEN. 33 In current clinical practice, the diagnosis of BEN depends on the exclusion of other causes of neutropenia.…”
Section: Discussionmentioning
confidence: 99%
“…Lower neutrophil counts were historically linked with African ancestry, but we now know that this lower ANC is strongly associated with a single nucleotide polymorphism residing in the promoter region of the DARC gene that prevents transcription and results in the red blood cell Duffy-null phenotype [Fy(a−b−)]. 6 , 7 The Duffy antigen is postulated to be a cytokine sink that binds to inflammatory cytokines, and therefore, the null form attracts neutrophils into the periphery less readily. 8 Additionally, this single nucleotide polymorphism affects hematopoiesis and results in phenotypically distinct neutrophils that readily leave the periphery.…”
Section: Introductionmentioning
confidence: 99%
“…While most investigators broadly describe BEN prevalence in 25-50% of black people [2], some studies report lower rates in similar populations, even with different geographic regions in the African continent and the middle-east. (However, this is possibly related to the presence of Caucasian heritage in patients classified as "Black" in these studies, resulting in heterozygosity for the ACKR1 genotype) [1,48,49]. Notwithstanding, the proportion of patients identified with BEN in our populations were still less than the lowest commonly reported prevalence rate.…”
Section: Limitations and Future Studiesmentioning
confidence: 58%
“…In instances, they require the help of a biostatistician with expertise in variant calling, as well as other in-silico prediction tools/ software, where it is a variant of uncertain significance. Notwithstanding, Duffy antigen testing provides a quicker and likely less expensive alternative, particularly if implemented into routine practice [46,49].…”
Section: Limitations and Future Studiesmentioning
confidence: 99%