title: Hemoglobin Pyrgos with hemoglobin H disease: new triple heterozygosity.
abstract: A 19-year old Thai male presented to the hospital with fever, acute hemolysis, pallor and jaundice without hepatosplenomegaly. On admission his hematocrit was 17.4% and a blood smear showed moderate hypochromia with mild anisopoikilocytosis. Hemoglobin (Hb) electrophoresis revealed Hb A2ABart's Hb H with an abnormal band, which on PCR proved to be Hb Pyrgos (beta83, glycine --> aspartic acid). The patient inherited beta(Pyrgos) globin from his mother and alpha-thalassemia-1 from his father. He was diagnosed as having Hb H (alpha-thalassemia-1/alpha-thalssemia-2) heterozygous Hb Pyrgos. He was treated with a transfusion of packed red blood cells. During follow-up his hematocrits ranged from 31 to 34%. The Hb Pyrgos did not add any deleterious effect to his Hb H disease.
authors: Department of Medicine, Maharat Nakhon Ratchasima Hospital, Nakhon Ratchasima, Thailand. chaikorat@gmail.com
authors: Somchai
authors: S
authors: Insiripong
authors: Varangnuch
authors: V
authors: Jitpakdeebodin
authors: Yupin
authors: Y
authors: Jopang
authors: Supan
authors: S
authors: Fucharoen
mesh_terms: D000328:Adult; D003937:Diagnosis, Differential; D006400:Hematocrit; D006454:Hemoglobins; D006455:Hemoglobins, Abnormal / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D008297:Male; D013785:Thailand; D017085:alpha-Thalassemia / Q000097:blood / Q000175:diagnosis* / Q000235:genetics
chemical_list: D006454:Hemoglobins; D006455:Hemoglobins, Abnormal; C073730:hemoglobin Pyrgos