label: Hemoglobin Alpha cis-Deletion with Constant Spring Genotype
label_lc: hemoglobin alpha cis-deletion with constant spring genotype
description: "A genetic finding indicating that one copy of chromosome 16 has one functional copy of a hemoglobin alpha (HBA) gene and one copy that encodes an HBA stop loss mutation called hemoglobin Constant Spring (CS), while the other copy of chromosome 16 has no functional HBA genes. This genotype is associated with a severe form of hemoglobin H disease."