Jolandie

+27 83 264 0439

Robin

+27 83 414 1191

Email

jolandie@fancsa.org.za

Diagnosis & Newly Diagnosed

How is Fanconi Anaemia Diagnosed?
Detailed Overview

1. Initial assessment

1. Initial assessment

A sample of the patient’s blood cells is treated with a DNA crosslinking chemical (either DEB — diepoxybutane or MMC — mitomycin C).

A sample of the patient’s blood cells is treated with a DNA crosslinking chemical (either DEB — diepoxybutane or MMC — mitomycin C).

Normal cells repair most of the damage with little effect.

Normal cells repair most of the damage with little effect.

In most cases, a combination of medical history, family history, and physical features raises suspicion for

FA. However, because FA shares symptoms with other conditions, the diagnosis can only be confirmed

through genetic testing.


Chromosome Breakage Test in Peripheral Blood Lymphocytes

The gold-standard diagnostic test for FA is the chromosome breakage test:


2. Confirming a diagnosis

2. Confirming a diagnosis

FA cells show marked chromosome breakage when exposed to these chemicals.

FA cells show marked chromosome breakage when exposed to these chemicals.

This test can also be performed prenatally on cells from chorionic villi or amniotic fluid.

When to Test for Fanconi Anaemia?

Any infant born with thumb or arm abnormalities.

Any infant born with thumb or arm abnormalities.

Any patient with aplastic anaemia at any age, even without other symptoms.

Any patient with aplastic anaemia at any age, even without other symptoms.

Any patient with early-onset squamous cell carcinoma of the head, neck, gynaecological, or gastrointestinal tract without a tobacco/alcohol history.

Any patient with early-onset squamous cell carcinoma of the head, neck, gynaecological, or gastrointestinal tract without a tobacco/alcohol history.

Testing is especially critical before bone marrow transplantation or cancer treatment, as individuals with FA

often react poorly to standard chemotherapy and radiation protocols.

Download Chapter 2. Diagnosis of Fanconi Anemia

Download Chapter 2. Diagnosis of Fanconi Anemia

Download Chapter 2. Diagnosis of Fanconi Anemia

Download Chapter 2. Diagnosis of Fanconi Anemia

Newly Diagnosed?

Being diagnosed with Fanconi Anaemia (FA) can bring a wave of emotions, fear, confusion, sadness, and

uncertainty. You may have a long list of questions and feel unsure where to begin. This is completely normal.


At FANCSA, we want you to know you are not alone. We’ve gathered essential information, practical

resources, and support programs to guide you through this journey. While FA can be challenging, a

diagnosis can also be empowering. Knowing what you are dealing with allows you and your healthcare team to:


A clearer way forward

A clearer way forward

Knowing what is happening gives you and your healthcare team a more confident starting point.

Begin effective monitoring and treatment

Begin effective monitoring and treatment

Understand your unique needs

Understand your unique needs

Reduce preventable risks

Reduce preventable risks

Improve your quality of life

Improve your quality of life

Sharing FA-specific information with your doctors is key to ensuring they provide the safest and most effective care, especially since FA requires different approaches to treatments like chemotherapy or bone marrow transplants.

Take your time to explore our website. Return whenever you need information, reassurance, or connection. You are in the right place and we are here for you.

Sharing FA-specific information with your doctors is key to ensuring they provide the safest and most effective care, especially since FA requires different approaches to treatments like chemotherapy or bone marrow transplants.

Take your time to explore our website. Return whenever you need information, reassurance, or connection. You are in the right place and we are here for you.

Contact Form

An information contact form to be completed by existing and new FA patients/family

Complete Form

Complete Form