Unusual presentation of a patient with hemoglobin constant spring and immune hemolytic anemia

ABSTRACT

Hemoglobin Constant Spring [Hb CS], an abnormal Hb characterized by elongated alpha -globin chain resulting from mutations of the termination codon in the alpha 2 - globin gene, is the most common nondelitional alpha -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. 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. Our study showed that the five-day massage therapy is a safe technique mothers can perform for stable preterm infants to facilitate weight gain in neonate