Alpha thalassaemia and extended alpha globin genes in Sri Lanka.
Blood Cells Mol Dis
; 50(2): 93-8, 2013 Feb.
Article
in En
| MEDLINE
| ID: mdl-23138098
ABSTRACT
The α-globin genes were studied in nine families with unexplained hypochromic anaemia and in 167 patients with HbE ß thalassaemia in Sri Lanka. As well as the common deletion forms of α(+) thalassaemia three families from an ethnic minority were found to carry a novel form of α(0) thalassaemia, one family carried a previously reported form of α(0) thalassaemia, --(THAI), and five families had different forms of non-deletional thalassaemia. The patients with HbE ß thalassaemia who had co-inherited α thalassaemia all showed an extremely mild phenotype and reduced levels of HbF and there was a highly significant paucity of α(+) thalassaemia in these patients compared with the normal population. Extended α gene arrangements, including ααα, αααα and ααααα, occurred at a low frequency and were commoner in the more severe phenotypes of HbE ß thalassaemia. As well as emphasising the ameliorating effect of α thalassaemia on HbE ß thalassaemia the finding of a novel form of α(0) thalassaemia in an ethnic minority, together with an unexpected diversity of forms of non-deletion α thalassaemia in Sri Lanka, further emphasises the critical importance of micro-mapping populations for determining the frequency of clinically important forms of the disease.
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Alpha-Thalassemia
/
Alpha-Globins
Limits:
Adult
/
Child
/
Child, preschool
/
Female
/
Humans
/
Male
/
Middle aged
/
Pregnancy
Country/Region as subject:
Asia
Language:
En
Journal:
Blood Cells Mol Dis
Journal subject:
HEMATOLOGIA
Year:
2013
Document type:
Article
Affiliation country:
Sri Lanka