Hemoglobin H Disease in the U.S.

The incidence of a severe form of α-thalassemia hemoglobin H disease is increasing in the U.S.

Historically, symptomatic α-thalassemia has been uncommon in the U.S., but the incidence of the subtype hemoglobin H (HbH) disease has increased as Asian and Mediterranean migration to the U.S. increases. Researchers studied the natural history of HbH disease in 86 patients (56% identified through newborn screening) in California; 23 patients (27%) had the more severe variant of the disease (hemoglobin H Constant Spring; HCS).

Overall, the parental ethnic background was Asian in 81%, Hispanic in 5%, African American in 3%, and mixed in 10%. Ancestry was less heterogeneous in HCS patients (95% Asian). Anemia was more severe in HCS at all ages. The HCS group had 45 episodes of anemia with infections requiring urgent transfusions before age 20;…

Reviewing Author

F. Bruder Stapleton, MD

Disclosures

Consultant/Advisory BoardCareer Physician

Editorial BoardsUpToDate

Leadership Positions in Professional SocietiesAmerican Society of Pediatric Nephrology Foundation (Chair)

F. Bruder Stapleton, MD

Disclosures

Consultant/Advisory BoardCareer Physician

Editorial BoardsUpToDate

Leadership Positions in Professional SocietiesAmerican Society of Pediatric Nephrology Foundation (Chair)