Catholic University Catholic Hematology Hospital

Overview

Fanconi anemia is indeed a rare genetic condition that affects the bone marrow's capacity to create enough vital blood components such as white blood cells, red blood cells, and platelets. It often reveals itself when a child is very young, and roughly 75% of those with the condition also have physical abnormalities that accompany the blood-related symptoms. To confirm a diagnosis of Fanconi anemia, doctors might use a chromosomal breakage test, which can show DNA vulnerability that's typical in this disorder. They'll also take a close look at the bone marrow to see if it's producing blood cells properly. Skin fibroblast culture tests, where skin cells are grown in the lab, can also provide clues, and genetic tests can identify the specific mutations causing the disease.

Causes and Symptoms

Fanconi anemia is mostly passed down in an autosomal or X-linked recessive pattern, meaning a person needs to inherit two copies of the faulty gene, one from each parent, to have the disease. If it's X-linked, it means the gene causing the problem is on the X chromosome. More than 20 genes are known to be involved in Fanconi anemia, including FANCA, FANCC, FANCD2, and others, even breast cancer genes like BRCA1 and BRCA2. People with Fanconi anemia can have a wide range of symptoms, and these can be different from one person to the next.

Some common signs are: Dark patches on the skin, known as hyperpigmentation, and café-au-lait spots, which are light brown skin markings. Missing thumbs or other skeletal abnormalities. Bone marrow failure, which means the bone marrow isn't making enough blood cells. Patients with Fanconi anemia also have a higher chance of developing cancer. When it comes to how they look, many have a smaller head size (microcephaly), are shorter than average, and have differences in the way their ears are shaped.

Treatment

Hematopoietic stem cell transplantation, sometimes known as bone marrow transplantation, is a key treatment for the bone marrow failure that comes with Fanconi anemia. It's a procedure where healthy stem cells are transferred into a patient's body to rebuild the bone marrow and restore its ability to produce blood cells. Even if a patient with Fanconi anemia isn't showing signs of bone marrow failure right now, it's really important to keep a close watch on their blood counts. That's why doctors recommend regular blood tests every three to four months. This careful monitoring is because people with Fanconi anemia have a higher risk of developing blood-related cancers, like leukemia or myelodysplastic syndromes.

Additionally, genetic counseling is a valuable resource for both the patient and their relatives. It helps the family understand the nature of the disorder, the risk of passing it on to future generations, and the implications for family planning.