Patients with Newly Diagnosed Fanconi Anemia Should Avoid alloHSCT

A study in the American Journal of Hematology recently presented some troubling findings on the relationship between Fanconi anemia and allogeneic hematopoietic stem cell transplantation (alloHSCT). Patients who participated in alloHSCT before achieving disease remission had significantly worse outcomes. This suggests that patients with newly diagnosed transformed Fanconi anemia put off alloHSCT until remission is achieved.

Fanconi Anemia

Fanconi anemia is a genetic disorder resulting from a mutated gene, which causes cell damage and prevents the reparation of broken DNA. Ultimately, this impacts the bone marrow and causes lower levels of blood cell production. Fanconi anemia is the most common form of aplastic anemia.

There are multiple issues related to lower blood cell levels. For example, low levels of red blood cells causes fatigue, while low white blood cell counts cause infections. Low platelet numbers mean less blood clotting and more bleeding.

Other symptoms of Fanconi anemia include vitiligo, learning or intellectual disabilities, bone problems, hearing problems, short height and small heads, and malformed heart, lungs, kidneys, and digestive tract. Additionally, people with more severe symptoms can experience blood and liver cancer, or bone marrow failure.

Transformed Fanconi anemia, the focus of the following study, means that the anemia can transform, or has transformed, into myelodysplasia or acute leukemia. Read more about Fanconi anemia.

Study Findings

Italian researchers analyzed 74 patients with transformed Franconi anemia. Of these patients:

  • 36 were male and 38 were female,
  • the median age was 14 years old,
  • 35 patients had myelodysplastic syndrome,
  • 35 patients had acute leukemia,
  • 4 patients had high-risk cytogenetic abnormalities (chromosomal or genetic mutations or abnormalities), and
  • All 74 patients did alloHSCT. Their data was sourced from alloHSCT over a period of 17 years.

Researchers wanted to understand overall survival (OS) and event-free survival (EFS). The 5-year overall survival rate was 42% (32 patients), with an event-free survival rate of 39% (29 patients). This means that within 5 years of alloHSCT, only 31 patients were still alive, with only 29 of them experiencing no adverse reactions. The non-relapse mortality (NRM) rate was 40% (30 patients), with the incidence of relapse at 21% (16 patients). Prior to alloHSCT, 22 patients (29.7%) received cytoreductive therapy. However, this did not affect survival rate.

Yet, researchers did find one factor that impacted overall survival rate: the disease state. Patients in complete remission during alloHSCT tended to have better patient outcomes, longer survival rates, and a better quality of life than patients receiving alloHSCT while their condition was still active. Out of the 42 deaths, 34 were related to the stem cell transplant.

Thus, alloHSCT can be a highly complex and potentially dangerous options for those with active Fanconi anemia. Alternative options should be considered instead.

Read the full article on Hematology Advisor.


Jessica Lynn

Jessica Lynn

Jessica Lynn has an educational background in writing and marketing. She firmly believes in the power of writing in amplifying voices, and looks forward to doing so for the rare disease community.

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