Fanconi anaemia

This is part of Rare diseases.

Diagnosis: Fanconi anaemia

Synonyms: --


Date of publication: 2014-03-24
Version: 2.0

ICD 10 code


The disease

Fanconi anaemia is an inherited disorder characterized by bone marrow failure (aplastic anaemia), an increased risk of cancer and a susceptibility to substances which can damage the DNA. Though primarily considered a blood disease, it affects several systems and organs. The condition is named after Swiss paediatrician Guido Fanconi, who published the first case description in 1927.

Fanconi anaemia is commonly associated with haematological (blood) abnormalities, such as low levels of certain types of blood cells including platelets (thrombocytes), white blood cells (leukocytes) and red blood cells (erythrocytes). The word “anaemia” comes from Latin and means a blood deficiency. Children with the condition are often born with deformities. These develop early during embryonic development and affect the skeleton (including the thumbs, the radius of the lower arm, and the hips), the kidneys and the heart.


The disease is found in fewer than one per 100,000 inhabitants. In Sweden, approximately one child is diagnosed per year. The disorder is equally distributed between the sexes and exists in all ethnic groups. As the disease may be asymptomatic or cause only mild symptoms it is likely that it is under-diagnosed.


Fanconi anaemia is caused by a mutation in one of several genes. All of these genes code for the production of proteins that contribute to repairing normal damage to DNA. This damage consists of abnormal connections between the two strands of DNA which make up the DNA double helix. These abnormal connections result in damage to the chromosomes (chromosome breakage). Some proteins (FANCA, FANCB, FANCC, FANCD, FANCE, FANCF, FANCG, FANCL and FANCM) create a coordination complex which causes the protein ubiquitin to bind to two other proteins (FANCD2 and FANCI). Normally, this makes it possible for the remaining Fanconi proteins to repair damaged DNA.

Impairment in the functioning of the mitochondria is also associated with the disease. The role of mitochondria, which are small units within our cells, is to supply energy. When the mitochondria are not working normally they cause various symptoms, sometimes in one particular organ, but usually in several organs or organ systems. In Fanconi anaemia the ability of the mitochrondria to deal with oxidised proteins is impaired. The increased amounts of oxidised proteins are thought to explain some of the symptoms which characterise the disease, such as the increased risk of diabetes and early ageing.

Currently (2014), 15 genes, which if mutated cause Fanconi anaemia, have been identified. The genes in question are, FANCA, FANCB, FANCC, BRCA2, FANCD2, FANCE, FANCF, FANCG, FANCI, BRIP1, FANCL, FANCM, PALB2, RAD51C and SLX4. Approximately 60 to 70 per cent of everyone with the disease has a mutation in FANCA, 15 per cent in FANCC and 10 per cent in FANCG. Mutations in other genes are very rare.

Mutations in FANCB are often linked to VACTERL association. Separate information on VACTERL association is available in the rare disease database of the Swedish National Board of Health and Welfare.

Sub-group  Gene            Location     
FA-A FANCA 16q24.3
FA-B FANCB Xp22.31
FA-C FANCC 9q22.3
FA-D1 BRCA2 13q12.3
FA-D2 FANCD2 3p25.3
FA-E FANCE 6p22-p21
FA-F FANCF 11p15
FA-I FANCI 15q25-q26
FA-J BRIP1 17q22
FA-L FANCL 2p16.1
FA-M FANCM 14q21.3
FA-N PALB2 16p12
FA-O RAD51C 17q22
FA-P SLX4 16p13.3

Figure: Table of genes associated with Fanconi anaemia

The severity of symptoms and the risk of developing aplastic anaemia and various cancers varies, according to which genetic mutation causes the disease in the individual. For this reason, when the diagnosis is made it is important to learn which gene has mutated.


With one exception, the inheritance pattern of all the known sub-groups of Fancomi anaemia is autosomal recessive. This means that both parents are healthy carriers of a mutated gene. In each pregnancy with the same parents there is a 25 per cent risk that the child will inherit double copies of the mutated gene (one from each parent). In this case the child will inherit the disease. In 50 per cent of cases the child inherits only one mutated gene (from one parent only) and, like both parents, will be a healthy carrier of the mutated gene. In 25 per cent of cases the child will not have the disease and will not be a carrier of the mutated gene.

Figure: Autosomal recessive inheritance

A person with an inherited autosomal recessive disease has two mutated genes. If this person has a child with a person who is not a carrier of the mutated gene, all the children will inherit the mutated gene but they will not have the disorder. If a person with an inherited autosomal recessive disease has children with a healthy carrier of the mutated gene (who has one single copy of the mutated gene) there is a 50 per cent risk of the child having the disorder, and a 50 per cent risk of the child being a healthy carrier of the mutated gene.

The inheritance pattern of one of the very rare sub-groups, FANCB, is X-linked recessive. FANCB is caused by a mutated gene located on the X chromosome, which is one of the chromosomes determining sex. Men have one X chromosome and one Y chromosome, while women have two X chromosomes. Inherited X-linked recessive disorders usually occur only in men, being passed down via a healthy female carrier who has one normal and one mutated gene. Sons of female carriers of a mutated gene run a 50 per cent risk of inheriting the disease and daughters run the same risk of being healthy carriers of a mutated gene. A man with an inherited X-linked recessive disease cannot pass it on to his sons, but all his daughters will be carriers of the mutated gene.


Several symptoms, such as anaemia and bone marrow failure, develop slowly over many years, but Fanconi anaemia should always be suspected in newborns with characteristic abnormalities of the forearms (radius) and thumbs.


Approximately three-quarters of all people with the disease have some kind of malformation. These can take several forms, but some particularly associated with the disease are abnormalities in, or an absence of, the bones of the forearm and the thumbs. Similar malformations to the thumbs may affect the big toes. Children may also have minor skeletal defects, such as congenital hip abnormalities, spinal malformations and rib abnormalities.

One kidney may be absent, and a kidney malformation where the two kidneys fuse together (horseshoe kidney) is common. Some children may have a congenital heart defect in which the wall that separates the upper chambers (the atria) or the lower chambers of the heart (the ventricles) does not close completely. (These are ASD, atrium septal defect, or VSD, ventricular septum defect, respectively).

Children with Fanconi anaemia have a characteristic appearance, with small eyes which appear to be widely-spaced. Approximately a quarter of the children affected have small heads (microcephalus). Children often have an extra fold of skin covering the inner corner of the eye (epicanthal fold) and may squint. There are also often ear abnormalities. Some children have depigmented skin areas or café-au-lait spots (brownish skin discolorations), which are in themselves harmless.


Small children with Fanconi anaemia may fail to thrive owing to feeding difficulties, and are susceptible to infection. They are often shorter than their peers, grow more slowly and as adults are shorter than normal.

Seriously impaired hearing and deafness are common. Motor development is often delayed. Some children have learning problems and there may be some cognitive impairment.

The sex glands (ovaries and testicles) are often underdeveloped leading to small genitalia, and in boys the testicles may not descend. Puberty is usually late in both boys and girls, and fertility reduced.

Aplastic anaemia

All Fanconi anaemia patients run a serious risk of bone marrow failure (aplastic anaemia). Bone marrow is the soft tissue within the bone that is responsible for the production of blood cells. The first signs of abnormalities in bone marrow activity include bleedings, infections, and episodes of fever and fatigue. The lowered production of blood cells is first detectable as a drop in platelet (thrombocyte) count. This gives rise to symptoms such as bleedings in the skin (bruises), gums, nose or urinary tract. Approximately one year later the white blood cell count also drops, causing symptoms including recurrent throat, ear and pulmonary infections. When the number of red blood cells is too low, causing fatigue, the diagnosis of aplastic anaemia may be made. Almost everyone with Fanconi anaemia develops aplastic anaemia before the age of 40.

Increased risk of cancer

Aside from the risk of aplastic anaemia, Fanconi anaemia is associated with an elevated risk of developing malignant tumours. The underlying cause is inability to repair damage to DNA. The most common malignancies associated with Fanconi anaemia are blood cancers, myelodysplastic syndrome (MDS, an early form of leukaemia) and acute myeloid leukaemia, (AML). There is also an increased risk of skin cancer (squamous-cell carcinoma) and solid tumours, mainly in the liver and the region of the head and throat. In certain forms of Fanconi anaemia the risk of tumours developing is particularly high.

Other symptoms

In adults there is also an increased risk of developing type 2 diabetes, and premature ageing.


Fanconi anaemia should always be suspected in newborns with characteristic abnormalities of the forearms (radius) and thumbs, and in children and young adults who develop aplastic anaemia. The diagnosis is then confirmed by different tests. It is important to examine all the organs which might be affected by the disease.

Fanconi anaemia is one of a group of conditions associated with an increased incidence of chromosome breakage, a group called chromosome breakage syndrome. For that reason an important element in the diagnosis of Fanconi anaemia is the identification of the incidence of chromosome breakage in the cells of individuals who are thought to have the disease. Usually the lymphocytes, a type of white blood cells, are tested. In most people with the disease the number of cells with spontaneous chromosome breakage is clearly elevated, although in some it is within the normal range. For this reason a further test is performed. Lymphocytes in the laboratory are exposed to a substance, usually mitomycin C or diepoxybutane, which damages DNA and the number of chromosome breakages is then recorded. A characteristic associated with Fanconi anaemia is the elevated frequency of chromosome breakage.

At the same time, cell division is examined to see the proportion of cells which stop at a specific phase in the process. In people with Fanconi anaemia, this number is significantly higher than normal.

Chromosome breakage analysis is no longer carried out in Sweden, but blood tests are sent either to the European Fanconi Anemia Center in Amsterdam or to Hammersmith Hospital in London.

When the analysis indicates Fanconi anaemia a DNA analysis is carried out, usually at the European Fanconi Anemia Center i Amsterdam. (See under “National and regional resources in Sweden.”)

At the time of diagnosis it is important that the family is offered genetic counselling. Carrier and prenatal diagnosis, as well as pre-implantation genetic diagnosis (PGD) in association with IVF (in vitro fertilization), are available in families where the mutation is known.


As Fanconi anaemia can cause symptoms in several organs and systems, many different types of specialists participate in treatment. As children with this disease often go on to develop various blood diseases, a paediatric haematologist may coordinate the required team of specialists.

People with Fanconi anaemia are particularly sensitive to substances which cause DNA damage, and to ionizing radiation. For this reason patients should, if possible, not be X-rayed and be examined instead using ultrasound or magnetic resonance images (MRI). This applies to all types of X-ray examinations, even low-dose types including lung and dental X-rays.


Heart examinations should be carried out at an early stage by a paediatric cardiologist who will decide on treatment in the case of a heart defect. Usually, in the case of Fanconi anaemia heart operations are not necessary.

Children born with deformed thumbs and lower arms may require corrective surgery, performed by a hand surgeon.

Vision and hearing

Vision and hearing tests should be carried out at an early stage. To treat a squint, the stronger eye can be covered with a patch. Sometimes it requires surgery. Short sight can be compensated for with glasses. Hearing is checked by an ENT specialist. In Sweden, the hearing impairment services assist in the fitting of hearing aids and provide listening devices.

Hormone anomalies

Hormone anomalies resulting in, for example, delayed or absent puberty, are diagnosed and treated by an endocrinologist and, if necessary, a gynaecologist or urologist.

Blood and blood marrow

Blood counts and bone marrow evaluations should be carried out on a regular basis. The serum AFP level (the level of alpha-fetoprotein, a substance secreted by liver tumours) should also be measured on these occasions. Check-up frequency is determined by the symptoms and the severity of the disease.

Bone marrow evaluations should be performed at intervals of a few years but if blood counts drop, the evaluation should be carried out without delay. The bone marrow assessment should be supplemented with cytogenetic analysis for early detection of chromosomal aberrations associated with myelodysplastic syndromes and acute myeloid leukaemia.

It is also important to attempt to prevent infections. All infections should be taken seriously and treated early, and all bacterial infections be treated with antibiotics.

It is also important to prevent bleeding. General precautions include avoiding sports with a high risk of injury. Platelet (thrombocytes) transfusions are given first when bleeding has commenced.

When blood count decreases and it is feared that aplastic anaemia may develop, it is time to plan for stem cell transplantation.

Haematopoietic stem cell transplantation

In stem cell transplantation a sick person’s bone marrow is replaced with that of a healthy person. All blood cells are produced from blood stem cells in the bone marrow. Blood-forming stem cells can develop into red blood cells (erythrocytes), white blood cells (lymphocytes) and blood platelets (thrombocytes). To optimise the chances of successful transplantation, the recipient of the marrow should be as free from infection as possible and in good physical condition. For this reason, it is important to carry out the transplantation at an early stage of the disease. The intervention itself is fairly simple, but the preparations, aftercare and major risks involved make it a highly demanding procedure.

In order to carry out a stem cell transplant, a donor must be found whose tissue type (HLA) matches that of the recipient. Tissue type is inherited from both parents, and each child has a 25 per cent chance of having the same tissue type as a sick sibling. The best solution is to transplant bone marrow from a healthy sibling with the same tissue type. If this is not possible a suitable donor may be located in national and international bone marrow donor programmes or in stored, frozen blood from umbilical cords. The “Tobias Registry” in Sweden contains approximately 40,000 registered voluntary donors, and the names of more than 20 million other donors can be found in registers outside Sweden.

Preparatory measures are needed to help the new stem cells engraft and minimise the risk of diseased cells attacking the new donor cells. Before the transplantation the recipient receives chemotherapy and treatment with antibodies. As people with Fanconi anaemia have fragile chromosomes and their chromosomes have only a limited ability to repair DNA, they do not tolerate radiation or chemotherapy in dosages normally given prior to stem cell transplantation. The preparative regimen (in this case reduced-intensity conditioning) therefore diverges significantly from the standard treatment. This treatment can be extremely exacting as chemotherapy also impairs the barrier function of the mucous membranes. There is a major risk of developing serious infection and for this reason the child needs to be kept in isolation for a period of weeks or sometimes months, prior to and after the transplantation.

In a blood stem cell transplant, bone marrow is removed from the hip bone of the donor by suction, after which it is given to the recipient via a drip directly into a blood vessel, in a similar way to a blood transfusion. Blood stem cells can also be collected from the donor’s blood. The blood is then filtered in a special kind of centrifuge which separates the stem cells from the rest of the blood, which can then be returned to the donor. A third alternative is to use the blood found in the umbilical cords of newborns. The blood of newborns has very high levels of blood stem cells and the small amount of blood remaining in the umbilical cord of a healthy newborn can be frozen and saved for later transplantations.

Regardless of their source, the transplanted blood stem cells find their way into the bone cavities of the recipient. There they grow, forming new blood marrow which produces the different types of blood cells.

Other points

Patients who have not undergone hematopoietic stem cell transplantation require regular blood transfusions. A side-effect of this treatment is gradual iron accumulation, eventually leading to organ damage. Iron overload is treated with medication, which increases iron excretion in the urine. Unfortunately, this treatment is very demanding, as the medication must be infused very slowly, either subcutaneously (under the skin) or intravenously. Although treatment for iron overload has recently become available in oral form, infusions are still required.

All Fanconi anaemia patients require lifelong monitoring for early detection of cancers. This is irrespective of whether they have undergone stem cell transplantation or not.

Psychological and social support, and habilitation

The affected child and family should be offered psychological and social support. Contact with other families in a similar situation, who are willing to share their knowledge and experience, may also be valuable. All Swedish regional paediatric centres offer support from a specialist nurse with responsibility for children with haematological diseases and cancer.

Some children and families may require contact with a habilitation team. The extent of the child’s disabilities determines which habilitation measures are required. In order to stimulate the child’s development and help compensate for loss of function, action should be taken early. A habilitation team includes professionals with special expertise in how disability affects everyday life, health and development. Help is available within the medical, educational, psychological, social and technical fields. Habilitation may include assessments, treatment, assistance with choice of aids, information about disabilities and counselling. It also includes information about support offered by the local authority as well as advice on the way accommodation and other environments can be adapted to the child’s needs. Parents and siblings may also receive support.

Practical advice


National and regional resources in Sweden

DNA-based diagnosis

DNA-based diagnoses are carried out at the European Fanconi Anemia Center, Laboratory for DNA and Protein Diagnostics, Dept Clinical Genetics - VU University Medical Center, PO Box 7057, 1007 MB Amsterdam, the Netherlands. Tel: +31 204 448 346, fax: +31 204 448 293, email: DNAdiagnostiek@vumc.nl, www.vumc.nl/genoomdiagnostiek.

Resources for children

Paediatric/oncology teams at Sweden’s regional hospitals in collaboration with paediatric departments.

Resources for adults

Haematology departments at Sweden’s regional hospitals.

Resource personnel

For children

Professor Göran Elinder, Clinical Research and Training, Söder Hospital, SE-118 83 Stockholm, Sweden. Tel: +46 8 616 10 00, email: goran.elinder@ki.se.

Professor Anders Fasth, The Queen Silvia Children’s Hospital, SE-416 85 Gothenburg, Sweden. Tel: +46 31 343 52 20, email: anders.fasth@gu.se.

Senior Physician Per Frisk, Paediatric Oncology and Haematology, Uppsala University Children’s Hospital, SE-751 85 Uppsala, Sweden. Tel: +46 18 611 58 87, email: per.frisk@akademiska.se.

Professor Bertil Johansson, Department of Genetics, Skåne University Hospital, SE-221 85 Lund, Sweden. Tel: +46 40 17 33 62, email: bertil.johansson@med.lu.se.

Professor Rolf Ljung, Paediatric Centre, Skåne University Hospital, SE-205 02 Malmö, Sweden. Tel: +46 40 33 12 86, email: rolf.ljung@skane.se.

Professor Jacek Winiarski, Children’s Hospital, Karolinska University Hospital, Huddinge, SE-141 86 Stockholm, Sweden. Tel: +46 8 585 800 00, email: jacek.winiarski@klinvet.ki.se.

For adults

Professor Gunnar Juliusson, Department of Haematology, Skåne University Hospital, SE-221 85 Lund, Sweden. Tel: +46 40 17 13 15, email: gunnar.juliusson@med.lu.se.

Professor Per Ljungman, Karolinska University Hospital, Huddinge, SE-141 86 Stockholm, Sweden. Tel: +46 8 585 800 82, email: per.ljungman@ki.se.

Professor Johan Wennerberg, ENT Department, Skåne University Hospital, SE-221 85 Lund, Sweden. Tel: +46 40 17 28 10, email: johan.wennerberg@med.lu.se.

Courses, exchanges of experience, recreation

For children

Information is available through the Swedish Childhood Cancer Foundation and their regional organizations, Box 5408, SE-114 84 Stockholm, Sweden. Tel: +46 8 584 209 00, www.barncancerfonden.se.

For adults

Information is available from The Blood Cancer Association and their local associations, Box 1386, SE-172 27 Sundbyberg, Sweden. Tel: +46 8 546 40 40, www.blodcancerforbundet.se.

Organizations for the disabled/patient associations etc.

There are six regional Childhood Cancer Associations in Sweden, all of which are members of the Swedish Childhood Cancer Foundation, Banérgatan 16, Box 5408, SE-114 84 Stockholm, Sweden. Tel: +46 8 584 209 00, fax: +46 8 584 109 00, email: info@barncancerfonden.se, www.barncancerfonden.se.

The Blood Cancer Association has 14 local associations in Sweden, Sturegatan 4, Box 1386, SE-172 27 Sundbyberg, Sweden. Tel: +46 8 546 40 540, fax: +46 8 546 40 549, email: info@blodcancerforbundet.se, www.blodcancerforbundet.se.

The Fanconi Anemia Research Fund, Inc, is located in the US. Email: info@fanconi.org, www.fanconi.org.

There are also many other international organizations including:

In France, Association Francaise de la maladie de Fanconi (AFMF), www.fanconi.com.

In Italy, Associazone Italiana per la Rierca sull’Anemia di Fanconi (AIRFA) www.airfa.it.

In Canada, Fanconi Canada (with information in both English and French) www.fanconicanada.org.

In Great Britain and Ireland, Fanconi Hope, www.fanconihope.org.

In Germany, Deutsche Fanconi-Anämie-Hilfe e.V. , www.fanconi.de.

Courses, exchanges of experience for personnel

Information for doctors

The Swedish Paediatric Society’s section for haematology and oncology, the working party for care within paediatric haemotology (VPH), www.blf.net/onko/index.html.

The Nordic Society of Paediatric Hematology and Oncology, www.nopho.org.

Research and development

In Sweden, all patients with Fanconi anaemia are invited to join a European Fanconi register and to participate in a number of ongoing research projects.

The research laboratory of the European Fanconi Anaemia Centre in Amsterdam carries out clinical and experimental research and offers diagnostic services.

Functional genome analysis, VU University Medical Center Amsterdam, www.vumc.nl/klgen/onderzoek.

In the European Group for Blood and Marrow Transplantation (EBMT), groups who work with paediatric diseases and severe aplastic anaemia collaborate in cytokine research and intervention trials.

EWOG-MDS Clinical Trial Protocol 2006, www.ewog-mds.org/public/index.html.

There is one international (US-based) and one European registry for Fanconi anaemia. Sweden contributes to the European registry.

Information material

Short summaries of all the database texts are available as leaflets, in Swedish only. They can be printed out or ordered by selecting the Swedish version, and then clicking on the leaflet icon which will appear under, “Mer hos oss” in the column on the right-hand side.

The American patient organization, Fanconi Anemia Research Fund, Inc, www.fanconi.org, provides information on the disease in English, French and Spanish.

Fanconi Anaemia: A handbook for families and their physicians (2000), www.fanconi.org/images/uploads/other/FAHandbook3.pdf.

Fanconi Anemia guidelines for diagnostics and management (2008), www.fanconi.org/images/uploads/other/Guidelines_for_Diagnosis_and_Management.pdf.


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Database references

OMIM (Online Mendelian Inheritance in Man)
Search: fanconi anemia

GeneReviews (University of Washington)
www.genetests.org (select GeneReviews)
Search: fanconi anemia

Orphanet (European database)

Fanconi Anemia Mutation Database

Atlas of Genetics and Cytogenetics in Oncology and Haematology

Cancer Genetics Database

Document information

The Swedish Information Centre for Rare Diseases produced and edited this information material.

The medical expert who wrote the original material was Senior Physician Albert N Békássy, Children’s Hospital, Skåne University Hospital in Lund.

The material has been revised by Professor Anders Fasth, The Queen Silvia Children’s Hospital, Gothenburg, Sweden.

An expert group on rare diseases, affiliated with the University of Gothenburg, approved the material prior to publication.

Date of publication: 2014-03-24
Version: 2.0
Publication date of the Swedish version: 2013-10-30

For enquiries contact The Swedish Information Centre for Rare Diseases, The Sahlgrenska Academy at the University of Gothenburg, Box 422, SE-405 30 Gothenburg, Sweden. Tel: +46 31 786 55 90, email: ovanligadiagnoser@gu.se.


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