Severe hemolytic anemia associated with Hb Volga [beta 27(beta 9)Ala -> Asp]: GCC -> GAC at codon 27 in a Turkish family

Sozen M. M., KARAASLAN C., ONER R., GUMRUK F., OZDEMIR M., ALTAY C., ...More

AMERICAN JOURNAL OF HEMATOLOGY, vol.76, no.4, pp.378-382, 2004 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 76 Issue: 4
  • Publication Date: 2004
  • Doi Number: 10.1002/ajh.20128
  • Journal Name: AMERICAN JOURNAL OF HEMATOLOGY
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.378-382
  • Inonu University Affiliated: No

Abstract

A boy presented at age 4 years with severe congenital hemolytic anemia characterized by highly elevated reticulocyle 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 P-chain in front of the gamma-chain. The beta(A)/beta(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) under barC-->G (A) under barC alteration at codon 27 (betaw27(B9)Ala-->Asp) causing the abnormal hemoglobin Volga. The beta-cDNA derived from the beta-Hb Volga allele could be differentiated from HbA beta-cDNA on silver-stained gel. No imbalance in the mRNA of beta(A)/beta(Hb) (Volga) ratio was observed. (C) 2004 Wiley-Liss, Inc.