A Rare Case: HaemoglobinS-Thalassemia in Adult

Hemoglobinopathy refers to a disease involving qualitative or quantitative defect of the structure synthesis haemoglobin molecules. The HaemoglobinS- beta thalassemia occurs in heterozygotes individual with beta-thalassemia and HaemoglobinS gene. A 29-year-old man came severe anemia, thrombocytopenia, history repeated blood transfusions. Physical examination showed pale conjunctiva, pansystolic murmurs, hepatosplenomegaly. fraction was found electrophoresis increased HaemoglobinF decreased HaemoglobinA2 fraction. peripheral smear shows abnormal erythrocytes morphologies such as pencil shapes, fragmentocytes, target cells, sickle shapes. patient diagnosed chronic anaemia caused by HaemoglobinS-beta thalassemia. It makes ineffective erythropoiesis, intravascular, extravascular hemolysis. This haemoglobinopathy ferritin transferrin saturation. presence renal failure indicate there is complicated condition like microvascular obstruction renal. In this case, reduction that not common Haemoglobin S / beta+ intravascular hemolysis, hematopoiesis, vaso-occlusive signs. Deoxyribo Nucleic Acid analysis further needed confirm combination disorders conjunction alpha Hereditary persistence fetal haemoglobin.