Severe hemolytic anemia associated with Hb Volga [β27(B9)Ala→Asp]: GCC→GAC at codon 27 in a Turkish family

A boy presented at age 4 years with severe congenital hemolytic anemia characterized by highly elevated reticulocyte count (30–50%) and prominent basophilic stippling. Hb had been 4 g/dL at age 7 months. The patient was on a monthly transfusion regimen up to the age of 7 years, when he underwent splenectomy. After removal of the spleen, his Hb stabilized at 11 g/dL. No abnormal pattern was detected in hemoglobin electrophoresis at pH 9 and 6. In‐vitro globin synthesis revealed the presence of an abnormal β‐chain in front of the γ‐chain. The β A /β X ratio was 0.77 at 30 min and 0.74 at 2 hr of incubation. Molecular analysis revealed that the patient had G C C→G A C alteration at codon 27 (β27(B9)Ala→Asp) causing the abnormal hemoglobin Volga. The β‐cDNA derived from the β‐Hb Volga allele could be differentiated from HbA β‐cDNA on silver‐stained gel. No imbalance in the mRNA of β A /β Hb Volga ratio was observed. Am. J. Hematol. 76:378–382, 2004. © 2004 Wiley‐Liss, Inc.