背景:伊朗遗传性出血性疾病的患病率很高,如血友病A(HA)和血友病B(HB)。本研究旨在分析HB患者的分子和临床特征。
方法:在2000年3月20日至2023年6月31日之间对重度HB患者进行了单中心研究。聚合酶链反应(PCR)扩增用于所有主要区域,比如发起人,外显子,相邻的内含子区域,和F9基因的非翻译区。最后,对PCR产物进行Sanger测序。
结果:本研究共纳入111例HB患者(17例HB[Leyden+]和94例HB[Leyden-])。在94例HB患者中(Leyden-),59人(62.8%)有误解,21人(22.3%)胡说八道,和8(8.5%)有移码突变。此外,在这项研究中,HB(Leyden)中最常见的致病变异是c.-17A>G。
结论:这项研究的结果证实,HB是由伊朗广泛的分子缺陷引起的。因此,通过了解基因型和表型,我们将能够对患者进行分层,这对他们的管理和结果很重要。
BACKGROUND: There is a high prevalence of inherited bleeding disorders in Iran, such as hemophilia A (HA) and hemophilia B (HB). This study aimed to analyze the molecular and clinical profiles of patients with HB.
METHODS: A single-center study was conducted among patients with severe HB between March 20, 2000, and June 31, 2023. The polymerase chain reaction (PCR) amplification was used for all of the major regions, such as the promoter, the exons, the adjacent intronic regions, and the untranslated regions of the F9 gene. Finally, Sanger sequencing was performed on the PCR products.
RESULTS: A total of 111 HB patients (17 with HB [Leyden +] and 94 with HB [Leyden -]) were enrolled in this study. Among 94 patients with HB (Leyden -), 59 (62.8 %) had missense, 21 (22.3 %) had nonsense, and 8 (8.5 %) had frameshift mutations. Moreover, the most frequent pathogenic variant in HB (Leyden +) was c.-17 A>G in this study.
CONCLUSIONS: The results of this study confirm that HB is caused by a wide range of molecular defects in Iran. Thus, by knowing the genotypes and phenotypes, we would be able to stratify the patients which is important in terms of their management and outcome.