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., ...Daha Fazla

AMERICAN JOURNAL OF HEMATOLOGY, cilt.76, ss.378-382, 2004 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Cilt numarası: 76 Konu: 4
  • Basım Tarihi: 2004
  • Doi Numarası: 10.1002/ajh.20128
  • Dergi Adı: AMERICAN JOURNAL OF HEMATOLOGY
  • Sayfa Sayıları: ss.378-382

Özet

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.