NY Infant with Rare Blood Disease Needs Bone Marrow Transplant

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Sophia Lopez was only 10 weeks old when doctors discovered she suffered from a rare blood disease called hemophagocytic lymphohistiocytosis. Although she completed a round of chemotherapy which sent the disease in remission, it returned in April and she is now in need of a bone marrow transplant. Sophia is now only 6 months old.

Hemophagocytic lymphohistiocytosis or HLH is a syndrome characterized by fever, enlarged spleen (splenomegaly), jaundice and the finding of activated macrophages that engulf cells in bone marrow, liver, or lymph nodes. Hyperproduction of certain cytokines may also play a role.

Read: Rare Blood Disorder Sidesteps Immune System Attack

HLH was first described in 1939 and thought to be a sporadic disease possibly associated with viral, bacterial, fungal, or parasitic infections. The disease has been linked to viruses such as Epstein-Barr, cytomegalovirus (CMV), viral hepatitis, or acute HIV seroconversion. Since then, a familial form of the disease has been found as well, possibly located on parts of chromosomes 9 and 10.

The CDC estimates that there are 1.2 cases of HLH per million children. Sweden, Hong Kong, and Taiwan have all reported large series of cases, but it is not known if the incidence in these countries is higher than other European or North American nations.

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Because the disorder is so rare, no controlled clinical trials of therapy have been performed. For patients with reactive HLH associated with pathogens, supportive care and treatment of the underlying infection is associated with a recover in 60-70% of cases. For patients affected with Epstein-Barr, if the condition is left untreated, death usually occurs from hemorrhage, infection or multi-organ failure. Patients are initially treated with a combination of chemotherapy and immunotherapy.

Infants, such as Sophia, are most likely afflicted with familial HLH, even if there is not a known positive family history. Allogeneic bone marrow transplant is used after failure of remission following 8 weeks of chemotherapy and immunotherapy.

Read: How to Be a Bone Marrow Donor

Sophia’s parents and family have undergone testing to donate bone marrow, but no one is a match. Complicating matters is the fact that she is of Puerto Rican descent and Latinos make up only 10% of the bone marrow registry. Her family has created a YouTube video to raise awareness and a donor drive was held Saturday in the Bronx.

"We're hoping that all we need is this one drive to find her a donor," Sophia's mother, Denise Lopez, 33, said.

For information on how to become a bone marrow donor, please visit the National Marrow Donor Program website at http://www.marrow.org.

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