Hemoglobin H disease and multiple congenital anomalies in a child of northern European origin.
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 alpha-/-- genotype commonly associated with the HbH phenotype in Asians. His parents both carry alpha thalassemia, in contrast to the previously described families in which only one of the two parents was a carrier.
D000015:Abnormalities, Multiple / Q000097:blood* / Q000235:genetics; D002648:Child; D004247:DNA / Q000235:genetics; D005838:Genotype; D006447:Hemoglobin H / Q000032:analysis; D006801:Humans; D008297:Male; D009693:Nucleic Acid Hybridization; D010375:Pedigree; D013789:Thalassemia / Q000097:blood* / Q000235:genetics
D004247:DNA; D006447:Hemoglobin H