Combination of three alpha-globin gene loci deletions and hemoglobin New York results in a severe hemoglobin H syndrome.
A chinese patient with hemoglobin (Hb) H and Hb New York is described. Unlike classical Hb H disease, the additional beta New York chain defect resulted in a more marked alpha/beta-globin chain imbalance in this patient with only one alpha-gene, accounting for her severe anemia (3.4-6.8 g/dl) during the steady state.
D000328:Adult; D000740:Anemia / Q000235:genetics / Q000628:therapy; D001803:Blood Transfusion; D002872:Chromosome Deletion; D004247:DNA / Q000032:analysis; D004905:Erythrocyte Aging; D005260:Female; D005914:Globins / Q000096:biosynthesis / Q000235:genetics*; D006455:Hemoglobins, Abnormal / Q000032:analysis*; D006801:Humans; D013789:Thalassemia / Q000209:etiology* / Q000235:genetics
D006455:Hemoglobins, Abnormal; D005914:Globins; D004247:DNA; C032181:hemoglobin New York