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Intron 22 inversion real-time polymerase chain reaction detection in haemophilia A families from central South Africa
Kloppers, J. F; Marx, G. M; van Rensburg, W. J. Janse.
  • Kloppers, J. F; s.af
  • Marx, G. M; s.af
  • van Rensburg, W. J. Janse; s.af
S. Afr. med. j. (Online) ; 109(11): 876-879, 2019. tab
Article in English | AIM | ID: biblio-1271212
Responsible library: CG1.1
ABSTRACT
Background. Intron 22 inversion (inv22) may account for 45% of all cases of severe haemophilia A. Haemophilia A is underdiagnosed in South Africa (SA), and owing to limited resources the genotypes of most haemophilia A patients are unknown.Objectives. To screen the haemophilia A population in central SA for inv22 using two novel detection methods. Methods. We recruited 62 participants from 27 families affected by haemophilia A in Free State and Northern Cape provinces. We screened for inv22 with our previously reported conventional polymerase chain reaction (PCR) method, as well as with a newly developed real-time PCR method. Sanger sequencing was performed to confirm the PCR results. Results. With the real-time PCR method, 10 of the severe haemophilia A patients and 3 carriers tested inv22-positive. The conventional PCR method and real-time PCR results were comparable in all but one case, where the discrepancy was attributed to sample-specific degradation. Inv22 was found in 29.4% of the severe haemophilia A population and 22.2% of the potential carriers. The inv22 status of most SA haemophilia A patients is currently unknown. The 29.4% of haemophilia A patients who were positive for inv22 was lower than the expected 45%, which could indicate a more prominent mutation than inv22 in the SA population.Conclusions. The above finding needs to be confirmed by performing comprehensive factor VIII gene (F8) genotyping on the remainder of the haemophilia A patients in SA. The study contributes to genetic research in haemophilia A and lays a foundation for future research in haemophilia A genetics in SA
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Index: AIM (Africa) Main subject: South Africa / Polymerase Chain Reaction / Real-Time Polymerase Chain Reaction Type of study: Diagnostic study Country/Region as subject: Africa Language: English Journal: S. Afr. med. j. (Online) Year: 2019 Type: Article

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Index: AIM (Africa) Main subject: South Africa / Polymerase Chain Reaction / Real-Time Polymerase Chain Reaction Type of study: Diagnostic study Country/Region as subject: Africa Language: English Journal: S. Afr. med. j. (Online) Year: 2019 Type: Article