Haemophilia testing in women and girls

Haemophilia testing in women and girls

Haemophilia testing in women and girls: your questions answered

This booklet gives comprehensive information about genetic testing and factor level testing for haemophilia in females. It is aimed at women, teenage girls and parents of girls to explain what is involved in the tests and answer some common questions.

The booklet walks through the steps in testing. It explains haemophilia and its symptoms, diagnosis and management in females. It describes how the factor VIII (F8) and factor IX (F9) gene alterations cause haemophilia and how haemophlia is inherited.  It also looks at some of the knotty questions, such as when to test and whether to test in childhood and why genetic counselling can be helpful. 

It includes tables, diagrams and personal stories.

Download the full booklet 6.8MB

Read the booklet online (ISSUU)


HAEMOPHILIA TESTING SECTIONS

 

Why test for haemophilia?

There are important reasons for testing for haemophilia in women and girls. This section explains why you or your daughter might be tested and the types of testing.

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How do you know if you have the gene alteration that causes haemophilia?

This section outlines the steps involved in identifying if you have a gene alteration that causes haemophilia. It explains what a 'carrier' is and which women and girls are 'obligate carriers' - where the inheritance pattern means they must have the gene alteration.

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How is haemophilia diagnosed?

This section outlines the medical guidelines for working out if a female has haemophilia or is a 'haemophilia carrier'. 

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Understanding haemophilia

An important part of testing for haemophilia is to have some current information about haemophilia, what causes it, how common it is, symptoms and how it is treated. This section also includes an infographic showing the differences in severity between males and females.

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Providing a bleeding history

A first step in diagnosis is to answer some questions from the specialist doctor or haemophilia nurse about your bleeding problems over your lifetime. This section outlines what is involved and gives a list of signs that suggest you might have a bleeding tendency.

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Inheritance: checking the family history

How is haemophilia inherited? What if there is no history of haemophilia in your family? This section explains the ins and outs of F8 and F9 genes and X chromosomes and how haemophilia is passed on in a family (with diagrams). It also explores why female factor levels and bleeding patterns can be so variable, even in the same family.

Download the PDF 1.2MB 

Genetic testing and counselling

What does having a genetic test involve? Should you or your daughter have a genetic test? When to test? How do you decide? Who do you need to tell about the results? This section explores common questions about genetic testing and the role of genetic counselling. It also includes personal stories.

Download the PDF 2MB 

Factor level testing

Who should have factor level testing? When should you have it? What do the results mean? These questions are answered in this section, along with information about treatment plans and what to tell your other doctors. It also includes personal stories.

Download the PDF 1.9MB

How are you feeling?

Being diagnosed with haemophilia or as a 'carrier' can affect people in very different ways. This section explores feelings and reactions after diagnosis and support for you and your partner or family.

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May 2022 edition
 
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Date last reviewed: 4 May 2022