Clinical, hematologic and molecular variability of sickle cell-β thalassemia in western India.
Indian J Hum Genet
;
2010 Sept; 16(3): 154-158
Article
in English
| IMSEAR
| ID: sea-138916
ABSTRACT
BACKGROUND:
Sickle cell-β thalassemia (HbS-β thalassemia) is a sickling disorder of varying severity, which results from compound heterozygosity for sickle cell trait and β thalassemia trait. The present study was undertaken to determine the genetic factors responsible for the clinical variability of HbS-β thalassemia patients from western India. MATERIALS ANDMETHODS:
Twenty-one HbS-β thalassemia cases with variable clinical manifestations were investigated. The α and β globin gene clusters were studied by molecular analysis.RESULTS:
Thirteen patients showed milder clinical presentation as against eight patients who had severe clinical manifestations. Four β thalassemia mutations were identified IVS 1-5 (G→C), codon 15 (G→A), codon 30 (G→C) and codon 8/9 (+G). α thalassemia and XmnI polymorphism in homozygous condition (+/+) were found to be common among the milder cases. The βS chromosomes were linked to the typical Arab-Indian haplotype (#31). Framework (FW) linkage studies showed that four β thalassemia mutations were associated with different β globin gene frameworks. Linkage of codon 15 (G→A) mutation to FW2 is being observed for the first time.CONCLUSION:
The phenotypic expression of HbS-β thalassemia is not uniformly mild and α thalassemia and XmnI polymorphism in homozygous condition (+/+) are additional genetic factors modulating the severity of the disease in the Indian subcontinent.
Full text:
Available
Index:
IMSEAR (South-East Asia)
Main subject:
Polymorphism, Genetic
/
Female
/
Humans
/
Male
/
Molecular Sequence Data
/
Adolescent
/
Beta-Thalassemia
/
India
/
Anemia, Sickle Cell
/
Mutation
Type of study:
Prognostic study
Country/Region as subject:
Asia
Language:
English
Journal:
Indian J Hum Genet
Year:
2010
Type:
Article
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