Unusual presentation of a patient with hemoglobin Constant Spring and immune hemolytic anemia

Abstract   Introduction: Hemoglobin Constant Spring (Hb CS),  a abnormal Hb characterized by elongated α-globin chain resulting from mutations of the termination codon in the α2 - globin gene , is the most common nondelitional  α-thalassemic mutation and is an important cause of HbH like disease in Southeast Asia. Case Report: A 9- years-old female with immune hemolytic anemia and splenomegally and abnormal hemoglobin in Hb electrophoresis is reported. conclusion: The first presentation of our patient was weakness and dark urine. She had a hemolytic anemia with normal MCV and positive direct coombs. In Hb electrophoresis, she had abnormal hemoglobin near the A2 region and slow moving component. PCR testing showed homozygous mutation in codon 142. Hb CS-containing RBCs have membrane pathology   and these pathology lead to destruction of her RBCs in reticuloendotelial system and she had a RBC sick syndrome resemble thalassemia intermedia.