Researchers from the Washington University School of Medicine in St Louis, Missouri, reported the only known case of a patient with concurrent infantile-onset Pompe disease and sickle cell anemia. They published their findings in a report in Frontiers in Pediatrics

“This report emphasizes the importance of newborn screening, early intervention, and treatment considerations for this complex patient presentation of [infantile-onset Pompe disease] and [sickle cell anemia],” the team concluded.

“We review the current guidelines and interventions taken to optimize his care and the pitfalls of those guidelines when treating patients with concomitant conditions.”

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The patient was a newborn of African descent. He underwent molecular testing, which showed that he had 2 GAA variants, namely NM_000152.5: c.842G>C, p.(Arg281Pro) and NM_000152.5: c.2560C>T, p.(Arg854*) in trans. He also had homozygosity for the HBB variant that causes sickle cell disease. 

The patient had hypotonia and cardiomyopathy, for which he was treated with enzyme replacement therapy with alglucosidase alfa infusions. Before this, he was given immune tolerance induction, chronic red blood cell transfusions, and penicillin V potassium prophylaxis. 

Read more about Pompe disease guidelines

Pompe disease is a rare and progressive lysosomal storage disorder caused by a mutation in the GAA gene, which normally encodes an enzyme responsible for breaking down glycogen into glucose. Infantile-onset Pompe disease is the most severe form of the disease, which is the result of a complete or near-complete deficiency of the GAA enzyme. Patients experience progressive cardiac and skeletal myopathy and succumb to death if not treated with enzyme replacement therapy.

Sickle cell disease is an autosomal recessive hemoglobinopathy caused by a specific variant in the hemoglobin beta chain. It mostly affects patients of African descent, and about 300,000 babies are born with the disease every year.


Starosta RT, Hou YCC, Leestma K, et al. Infantile-onset Pompe disease complicated by sickle cell anemia: case report and management considerations. Front Pediatr. 2022;10:944178. doi:10.3389/fped.2022.944178