采用国家登记处的荟萃分析方法，确定男性血友病的患病率和出生时患病率。

Establishing the Prevalence and Prevalence at Birth of Hemophilia in Males: A Meta-analytic Approach Using National Registries.

机构信息

McMaster University, Hamilton, Ontario, Canada (A.I., F.G.).

Poole College of Management at North Carolina State University, Raleigh, North Carolina (J.S.S.).

出版信息

Ann Intern Med. 2019 Oct 15;171(8):540-546. doi: 10.7326/M19-1208. Epub 2019 Sep 10.

DOI:10.7326/M19-1208

PMID:31499529

Abstract

BACKGROUND

The large observed variability in hemophilia prevalence prevents robust estimation of burden of disease.

OBJECTIVE

To estimate the prevalence and prevalence at birth of hemophilia and the associated life expectancy disadvantage.

DESIGN

Random-effects meta-analysis of registry data.

SETTING

Australia, Canada, France, Italy, New Zealand, and the United Kingdom.

PARTICIPANTS

Male patients with hemophilia A or B.

MEASUREMENTS

Prevalence of hemophilia as a proportion of cases to the male population, prevalence of hemophilia at birth as a proportion of cases to live male births by year of birth, life expectancy disadvantage as a 1 - ratio of prevalence to prevalence at birth, and expected number of patients worldwide based on prevalence in high-income countries and prevalence at birth.

RESULTS

Prevalence (per 100 000 males) is 17.1 cases for all severities of hemophilia A, 6.0 cases for severe hemophilia A, 3.8 cases for all severities of hemophilia B, and 1.1 cases for severe hemophilia B. Prevalence at birth (per 100 000 males) is 24.6 cases for all severities of hemophilia A, 9.5 cases for severe hemophilia A, 5.0 cases for all severities of hemophilia B, and 1.5 cases for severe hemophilia B. The life expectancy disadvantage for high-income countries is 30% for hemophilia A, 37% for severe hemophilia A, 24% for hemophilia B, and 27% for severe hemophilia B. The expected number of patients with hemophilia worldwide is 1 125 000, of whom 418 000 should have severe hemophilia.

LIMITATION

Details were insufficient to adjust for comorbid conditions and ethnicity.

CONCLUSION

The prevalence of hemophilia is higher than previously estimated. Patients with hemophilia still have a life expectancy disadvantage. Establishing prevalence at birth is a milestone toward assessing years of life lost, years of life with disability, and burden of disease.

PRIMARY FUNDING SOURCE

None.

摘要

背景

血友病发病率的巨大差异使得疾病负担的准确评估变得困难。

目的

评估血友病的发病率和患病率以及相关的预期寿命劣势。

设计

对登记处数据进行随机效应荟萃分析。

设置

澳大利亚、加拿大、法国、意大利、新西兰和英国。

参与者

男性血友病 A 或 B 患者。

测量指标

血友病发病率（每 10 万男性中的病例数），血友病发病率（每 10 万男性活产中的病例数），以发病率与出生时发病率的比值表示的预期寿命劣势，以及基于高收入国家发病率和出生时发病率的全球预期患者人数。

结果

所有严重程度的血友病 A 的发病率（每 10 万男性）为 17.1 例，严重血友病 A 的发病率为 6.0 例，所有严重程度的血友病 B 的发病率为 3.8 例，严重血友病 B 的发病率为 1.1 例。所有严重程度的血友病 A 的出生时发病率（每 10 万男性）为 24.6 例，严重血友病 A 的发病率为 9.5 例，所有严重程度的血友病 B 的发病率为 5.0 例，严重血友病 B 的发病率为 1.5 例。高收入国家血友病 A 的预期寿命劣势为 30%，严重血友病 A 为 37%，血友病 B 为 24%，严重血友病 B 为 27%。全球血友病患者预计有 112.5 万人，其中 41.8 万人应为重度血友病患者。