Two New β Chain Variants: Hb Tripoli [β26(B8)Glu→Ala] and Hb Tizi‐Ouzou [β29(B11)Gly→Ser]

Autor:	Philippe Lacan, Michel Becchi, Nicole Couprie, Martine Aubry, Martine Ffrench, Alain Francina, Isabelle Zanella-Cléon
Rok vydání:	2004
Předmět:	Genetics Microcytosis Biochemistry (medical) Clinical Biochemistry Hematology Biology medicine.disease Molecular biology DNA sequencing In vitro Exon RNA splicing Hypochromia medicine Beta (finance) Gene Genetics (clinical)
Zdroj:	Hemoglobin. 28:205-212
ISSN:	1532-432X 0363-0269
DOI:	10.1081/hem-120040313
Popis:	Two new β‐globin chain variants: Hb Tripoli: codon 26, GAG→GCG [β26(B8)Glu→Ala] and Hb Tizi‐Ouzou: codon 29, GGC→AGC [β29(B11)Gly→Ser] are described on the first exon of the β‐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 α+ 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 α‐globin genes abnormality and could suggest a possible abnormal splicing.
Databáze:	OpenAIRE
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