Hemoglobin H disease and multiple congenital anomalies in a child of Northern European origin

Publisher Website
Google Scholar
Abstract
Hemoglobin H (HbH) disease was recently described in three unrelated northern European boys with mental retardation. We have studied a somewhat similar patient, in whom HbH disease was associated with multiple congenital anomalies. Restriction endonuclease analysis of DNA from this proband yielded a pattern consistent with the α‐/– genotype commonly associated with the HbH phenotype in Asians. His parents both carry α thalassemia, in contrast to the previously described families in which only one of the two parents was a carrier.