Severe hemolytic anemia associated with Hb Volga [beta27(B9)Ala-->Asp]: GCC-->GAC at codon 27 in a Turkish family.

Abstract

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 beta-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 GCC-->GAC alteration at codon 27 (beta27(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.

• Authors: M Sözen, C Karaaslan, R Oner, F Gümrük, M A Ozdemir, C Altay, A Gürgey, C Oner
• Journal: American journal of hematology (Am J Hematol) Vol. 76 Issue 4 Pg. 378-82 (Aug 2004) ISSN: 0361-8609 [Print] United States
• PMID: 15282673 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)
• Copyright: Copyright 2004 Wiley-Liss, Inc.

Chemical References

• Codon
• Hemoglobins, Abnormal
• Iron Chelating Agents
• hemoglobin Volga
• Globins
• Deoxyribonucleases, Type II Site-Specific
• GGCC-specific type II deoxyribonucleases
• Deferoxamine

Topics

• Adult
• Anemia, Hemolytic, Congenital (blood, drug therapy, genetics, surgery)
• Blood Protein Electrophoresis
• Child, Preschool
• Codon (genetics)
• Combined Modality Therapy
• Deferoxamine (therapeutic use)
• Deoxyribonucleases, Type II Site-Specific
• Female
• Globins (genetics)
• Hemoglobins, Abnormal (genetics, isolation & purification)
• Humans
• Iron Chelating Agents (therapeutic use)
• Male
• Polymorphism, Restriction Fragment Length
• Pregnancy
• Pregnancy Complications, Hematologic (etiology)
• Reticulocyte Count
• Silver Staining
• Splenectomy
• Thrombosis (etiology)
• Turkey