The Southeast Asian journal of tropical medicine and public health · 2012
Hemoglobin Pyrgos with hemoglobin H disease: new triple heterozygosity.
Клинический случайСтатьяНазвание и аннотация: Перевод в очереди
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Insiripong Somchai, Jitpakdeebodin Varangnuch, Jopang Yupin, Fucharoen Supan
Аннотация
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.