ISSN:
1432-0584
Keywords:
Hb E
;
β-Thal trait
;
α-Globin genes
;
Chain imbalance
Source:
Springer Online Journal Archives 1860-2000
Topics:
Medicine
Notes:
Summary We have examined the molecular basis of three inherited hemoglobin (Hb) disorders present in a Czechoslovakian girl with a severe, transfusion-dependent, hemolytic anemia. She is heterozygous for Hb E (on a genetic background specific for Czechoslovakian families), heterozygous for the β∘-thalassemia (thal) allele IVS-I-1 (G → A), and heterozygous for an α-globin gene triplication. The combination of these three undesirable traits results in a severe chain imbalance that is the basis of the serious hemolytic disorder observed in this teenager.
Type of Medium:
Electronic Resource
URL:
http://dx.doi.org/10.1007/BF01714960
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