Two new beta-chain variants: Hb Tripoli [beta26(B8)Glu-->Ala] and Hb Tizi-Ouzou [beta29(B11)Gly-->Ser].

Abstract

Two new beta-globin chain variants: Hb Tripoli: codon 26, GAG-->GCG [beta26(B8)Glu-->Ala] and Hb Tizi-Ouzou: codon 29, GGC-->AGC [beta29(B11)Gly-->Ser] are described on the first exon of the beta-globin gene. The two variants are characterized by DNA sequencing and mass spectrometry (MS). Hematological abnormalities were found in the two carriers. The presence of microcytosis and hypochromia is explained by an additional homozygous 3.7 kb alpha(+) thalassemic deletion for the carrier of Hb Tizi-Ouzou. Hb Tizi-Ouzou showed a slight instability in vitro. The same hematological abnormalities associated with anemia are difficult to explain for Hb Tripoli's carrier in the absence of an alpha-globin genes abnormality and could suggest a possible abnormal splicing.

• Authors: Philippe Lacan, Michel Becchi, Isabelle Zanella-Cleon, Martine Aubry, Martine Ffrench, Nicole Couprie, Alain Francina
• Journal: Hemoglobin (Hemoglobin) Vol. 28 Issue 3 Pg. 205-12 (Aug 2004) ISSN: 0363-0269 [Print] England
• PMID: 15481887 (Publication Type: Journal Article)

Chemical References

• Codon
• Hemoglobins, Abnormal
• hemoglobin Tizi-Ouzou
• hemoglobin Tripoli

Topics

• Amino Acid Substitution (genetics)
• Anemia, Hypochromic (genetics)
• Codon (genetics)
• Exons (genetics)
• Female
• Hemoglobins, Abnormal (genetics)
• Humans
• Male
• Mass Spectrometry
• Point Mutation (genetics)
• RNA Splicing (genetics)
• Sequence Analysis, DNA
• Sequence Deletion (genetics)
• alpha-Thalassemia (genetics)