Fanconi anemia epidemiology and demographics

Jump to navigation Jump to search

Fanconi anemia Microchapters

Home

Patient Information

Overview

Historical Perspective

Classification

Pathophysiology

Causes

Differentiating Fanconi anemia from other Diseases

Epidemiology and Demographics

Risk Factors

Screening

Natural History, Complications and Prognosis

Diagnosis

Diagnostic Study of Choice

History and Symptoms

Physical Examination

Laboratory Findings

Electrocardiogram

X Ray

CT

MRI

Ultrasound

Other Imaging Findings

Other Diagnostic Studies

Treatment

Medical Therapy

Surgery

Primary Prevention

Secondary Prevention

Cost-Effectiveness of Therapy

Future or Investigational Therapies

Case Studies

Case #1

Fanconi anemia epidemiology and demographics On the Web

Most recent articles

Most cited articles

Review articles

CME Programs

Powerpoint slides

Images

American Roentgen Ray Society Images of Fanconi anemia epidemiology and demographics

All Images
X-rays
Echo & Ultrasound
CT Images
MRI

Ongoing Trials at Clinical Trials.gov

US National Guidelines Clearinghouse

NICE Guidance

FDA on Fanconi anemia epidemiology and demographics

CDC on Fanconi anemia epidemiology and demographics

Fanconi anemia epidemiology and demographics in the news

Blogs on Fanconi anemia epidemiology and demographics

Directions to Hospitals Treating Fanconi anemia

Risk calculators and risk factors for Fanconi anemia epidemiology and demographics

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief:

Overview

Epidemiology and Demographics

FA is rare overall, but it is one of the most common inherited bone marrow failure syndromes.

Historically, the heterozygote frequency for pathogenic FA mutations has been estimated to be 1:300 in the United States and Europe and 1:100 in Ashkenazi Jews and South African Afrikaners. A 2011 study using demographic data from the Fanconi Anemia Research Fund estimated a higher carrier frequency in the United States (within the range of 1:156 to 1:209) and in Israel (within the range of 1:66 to 1:128) [65].

Incidence

  • The incidence of FA is approximately 1 in 100,000 to 250,000 births

Prevalence

  • The prevalence of Fanconi Anemia is approximately [number range] per 100,000 individuals worldwide.
  • In [year], the incidence/prevalence of [disease name] was estimated to be [number range] cases per 100,000 individuals worldwide.
  • The prevalence of [disease/malignancy] is estimated to be [number] cases annually.

Age

  • Patients of all age groups may develop FA.
  • The age of onset of bone marrow failure in patients with FA is highly variable, even among siblings. 
  • Approximately 3 out of every 4 patients develop evidence of marrow failure ranging from mild to severe within the first decade of life (4-6) . Rarely, marrow failure from FA can present in infants and small children. 
  • An analysis of 754 patients in the International Fanconi Anemia Registry (IFAR) suggested that the average age of onset is 7.6 years. However, that study analyzed patients who mainly had defects in the FANCA, FANCC, and FANCG genes, which are the most frequently mutated FA genes; therefore, the results may not be representative of patients with rarer gene defects (5) .
  • In adults as compared to children, FA is less commonly diagnosed due to primary bone marrow failure; instead, the diagnosis of FA more commonly occurs as a consequence of presentation with cancer or with severe toxicity after chemotherapy treatment for a malignancy (7,8).
  • Severe, usually transient, bone marrow failure can also develop in non-transplanted female patients with FA during pregnancy.

Race

  • There is no racial predilection to FA. As it is found is all races and ethinic group.
  • Ethinic groups with higher than average prevalence of FA include Jews, Spanish Gypsies and Black and Afrikaner population from South Africa. These increases prevalence are due to specific founder mutations. Other countried where found founder mutation include Tunisia, Japan, Korea and Brazil.

Gender

  • [Disease name] affects men and women equally.
  • [Gender 1] are more commonly affected by [disease name] than [gender 2]. The [gender 1] to [gender 2] ratio is approximately [number > 1] to 1.

Region

  • The FA cases are more prevalent in Middle East parts of the World where tribal and/or local customs with respect to marriage make consanguinity, and thus higher probability of inheriting an autosomal recessive disease more common.
  • [Disease name] is a common/rare disease that tends to affect [patient population 1] and [patient population 2].

Developed Countries

Developing Countries

References

Template:WH Template:WS