Rare blood diseases in babies

To really understand rare conditions, you need a lot of data from a lot of patients. But no one hospital or center usually sees more than a few patients with any given rare disease, precisely because they’re rare.

This is where case registries become important. These research collaborations, which usually span several institutions, typically focus on a single rare disease or a few related conditions, serving as a data warehouse for collecting information from as many patients and as many places as possible.

One such registry based out of Dana-Farber/Boston Children’s Cancer and Blood Disorders Center—the Pediatric Myelodysplastic Syndromes (MDS) and Bone Marrow Failure (BMF) Registry—has recently started to bear fruit, finding that a unique set of mutations in a single gene may play a larger-than-realized role in a group of rare blood diseases.

“MDS is the most common hematologic malignancy among the elderly, but pediatric MDS is very rare, ” says Hofmann. “It appears in only about four out of every million children.

“One of the biggest challenges for those of us caring for MDS patients is that the underlying etiology and biology of MDS are poorly understood, ” Hofmann says. “We have barely started to scratch the surface.”

“One of the biggest challenges for those of us caring for MDS patients is that the underlying etiology and biology…are poorly understood. We have barely started to scratch the surface.”

The registry’s main goal is “to collaborate with national and international centers to advance scientific knowledge in the field and work toward the discovery of new targets for therapy.” And after three years of work, the team has started to make some progress toward that goal. As they told an audience of pediatric hematologists and oncologists at the 2013 annual meeting of the American Society of Pediatric Hematology Oncology, Hofmann, Williams and Fleming have homed in on mutations in a transcription factor—a gene that helps cells read other genes—called GATA2.

“In reviewing case histories, family pedigrees and mutation status, we have noted a spectrum of GATA2 mutation phenotypes that reveal themselves in features of patients’ hematology, immunology and infection susceptibilities, ” Hofmann says.

It started with two MDS patients whose families had histories of blood disorders and lymphedema or warts. After finding GATA2 mutations in both families, Hofmann and her colleagues sequenced the gene in blood and bone marrow from an additional 94 registered patients with bone marrow failure or primary MDS. They found 12 people with a GATA2 mutation: six patients, two first-degree relatives and four sporadic cases.

“This is a much higher mutation rate than we would have expected to find, ” Hofmann notes.

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