Variable clinical severity of Hb E beta-thalassemia among Indians.
Article
in English
| IMSEAR
| ID: sea-92615
ABSTRACT
OBJECTIVE:
The aim of this preliminary report was to look at the effect of genetic variations in the alpha, beta and gamma globin genes in 7 cases of hemoglobin E/beta-thalassemia with diverse clinical expression of the disease.METHODS:
beta-thalassemia mutations were characterized by PCR and dot blot hybridization. G gamma gene polymorphism (Xmnl) was determined by PCR followed by restriction enzyme digestion and polyacrylamide gel electrophoresis. alpha genotyping was done by Southern blot hybridization.RESULTS:
Six cases had a severe beta+ mutation [IVS 1 nt 5 (G-->C)] and one case had a beta zero mutation [F/S 41/42 (-CTTT)]. Hence, the beta-thalassemia mutation does not seem to contribute towards the clinical diversity. alpha-genotyping showed a single alpha-gene deletion of the rightward type in three of the five milder cases. The -158 G gamma (C-->T) substitution was present at least in heterozygous state (+/-) in all the milder cases.CONCLUSIONS:
Deletional alpha thalassemia and presence of the -158 G gamma (C->T) substitution are the two factors which appear to be more important in decreasing the severity of the disease rather than the nature of the beta thalassemia mutation.
Full text:
Available
Index:
IMSEAR (South-East Asia)
Main subject:
Female
/
Humans
/
Male
/
Globins
/
Hemoglobin E
/
Gene Expression
/
Child
/
Child, Preschool
/
Adolescent
/
Beta-Thalassemia
Country/Region as subject:
Asia
Language:
English
Year:
1999
Type:
Article
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