THE UNSTABLE HEMOGLOBINS: SOME GENETIC ASPECTS
Wajcman H1,*, Galacteros F2
*Corresponding Author: Dr. Henri Wajcman, INSERM U 468 and Service de Biochimie, Hôpital Henri Mondor AP-HP, 51 Avenue du Maréchal de Lattre de Tassigny, 94010 Créteil, France
page: 3

Abstract

Unstable hemoglobins (Hbs), in addition to their ab­normal biochemical properties and functions, differ from most other Hb variants in their genetic presentation. They are single, solitary mutations that frequently result from a de novo event and lead to dominant phenotypes. A special group is made up of the hyperunstable Hbs. They are due to mutations of the b gene resulting in a syndrome named dominant b-thalassemia (thal), because it mimics thalas­semia intermedia but with an apparently dominant mode of transmission of the disease. Unstable a chain variants, instead of causing a classical hemolytic Heinz body ane­mia, frequently behaves as non deletional a-thalassemic alleles, leading to an anemia with some Hb H when homo­zygous, or associated to another a gene defect.

 

Key words: abnormal hemoglobin (Hb), hemolytic anemia; dominant thalassemia (thal); Hb H disease

 




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