Establishing a comprehensive genetic diagnosis strategy for hemophilia B and its application in Chinese population

Lin, Xiang; Wang, J.; Xiao, Xueshan; Xu, Yan; Yan, Qijiang

doi:10.1111/ijlh.12771

Cited by 1 publication

(2 citation statements)

References 28 publications

(37 reference statements)

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“…Hemophilia-B (HB, OMIM 306900) is the second most common form of hemophilia after hemophilia-A accounting for 15-20% of hemophilia affection. HB incidence is estimated as one in 30,000 live male births worldwide with rare reports of affected females [ 1 ]. However, reports vary widely, and the prevalence of hemophilia B per 100,000 males in 103 countries ranged from 0.01 (Nigeria) to 8.07 (Ireland).…”

Section: Introductionmentioning

confidence: 99%

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Defining the molecular pathology and consequent phenotypes in Egyptian HB patients

El‐Kamah

Mosaad²,

Taher

et al. 2021

Journal of Genetic Engineering and Biotechnology

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Background Hemophilia B (HB) (also known as Christmas disease) is a rare X-linked recessive disorder characterized by spontaneous or prolonged hemorrhages caused by mutations in Factor 9 (F9) gene leading to deficient or defective coagulation F9. Our study aimed at identifying the causative mutations within a sample of HB Egyptian patients. The present study comprised clinical data of eleven HB patients descending from six unrelated families and a seventh family including a carrier mother with a history of deceased HB sibling. Sequencing of F9 gene was performed. Results The study revealed four mutations; two missense NM_000133.3:c.676C>G, (P.Arg226Gly) and NM_000133.3:c.1305T>G, (p.Cys435Trp), and two nonsense mutations NM_000133.3:c.880C>T, (p.Arg294*) and NM_000133.3:c.1150C>T, (p.Arg384*), identified mutations spanned exons 6 and 8 of which a total of three mutations are located in hotspot exon 8 of F9 gene. Conclusions Reviewing the literature, this is the first molecular analysis of F9 gene in HB Egyptian patients. Consistent genotype/phenotypic severity correlation could be concluded, helping proper genetic counseling and prenatal decision taking.

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Section: Introductionmentioning

confidence: 99%

“…More than 3940 unique mutations have been reported so far in HGMD [ 6 ]. Most mutations within F9 gene can be detected by direct DNA sequencing; however, for large gross deletions, the multiple ligation—dependent probe amplification (MLPA) assay could be employed [ 1 ].…”

Section: Introductionmentioning

confidence: 99%

Defining the molecular pathology and consequent phenotypes in Egyptian HB patients

El‐Kamah

Mosaad²,

Taher

et al. 2021

Journal of Genetic Engineering and Biotechnology

View full text Add to dashboard Cite

show abstract

Establishing a comprehensive genetic diagnosis strategy for hemophilia B and its application in Chinese population

Abstract: The established genetic diagnosis strategy for HB in our study was comprehensive and well applied in clinic practice. Besides, we recommended that DNA direct sequencing combined with Karyomapping was a better PGD protocol.

Cited by 1 publication

References 28 publications

Defining the molecular pathology and consequent phenotypes in Egyptian HB patients

Defining the molecular pathology and consequent phenotypes in Egyptian HB patients

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