Severity ranking of non-deletional alpha thalassemic alleles: insights from an Omani family study.
Eur J Haematol
; 86(6): 507-11, 2011 Jun.
Article
em En
| MEDLINE
| ID: mdl-21410534
ABSTRACT
In an Omani family, four different alpha thalassemic alleles, one single-gene deletional (-α(3.7) ) and three non-deletional forms (α(TSaudi) , α(Δ5nt) , and α(ΔG) ), interact in various combinations and result in two distinct hematological phenotypes, with and without HbH inclusions. After excluding the presence of potential genetic modifiers, viz associated ß-thalassemic alleles or functional alpha hemoglobin stabilizing protein (AHSP) polymorphisms, we observed that only the genetic combinations involving α(TSaudi) mutation are associated with HbH inclusions (a marker of degree of α/ß-chain imbalance) and high reticulocyte count (a marker of ongoing hemolysis). Overall, the α(TSaudi) mutation is associated with a more severe α-globin deficiency than the other two (α(Δ5nt) and α(ΔG) ) non-deletional α(0) thalassemic mutations. The likely molecular explanation is that the compensatory increase in the linked α1 globin gene expression is much more compromised in cases with α(TSaudi) mutation.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Talassemia alfa
/
Alfa-Globinas
/
Mutação
Tipo de estudo:
Prognostic_studies
Limite:
Adolescent
/
Adult
/
Child
/
Child, preschool
/
Female
/
Humans
/
Infant
/
Male
/
Middle aged
País/Região como assunto:
Asia
Idioma:
En
Ano de publicação:
2011
Tipo de documento:
Article