Molecular identification of Sicilian (deltaß)º-thalassemia associated with ß-thalassemia and hemoglobin S in Brazil
Braz. j. med. biol. res
;
35(8): 873-876, Aug. 2002. ilus, tab
Article
in English
| LILACS
| ID: lil-325540
ABSTRACT
We describe the clinical and molecular characteristics of two unrelated Brazilian families with an association of the Sicilian form of (deltaß)º-thalassemia with hemoglobin S and ß-thalassemia. Direct sequencing of the ß-globin gene showed only the hemoglobin S mutation in patient 1 and the ß-thalassemia IVS1-110 in patient 2. The other allele was deleted in both patients and PCR of DNA samples of the breakpoint region of both patients showed a band of approximately 1,150 bp, expected to be observed in the DNA of carriers of Sicilian (deltaß)º-thalassemia. The nucleotide sequence of this fragment confirmed the Sicilian deletion. There are few reports concerning the Hb S/(deltaß)º-thalassemia association and patient 2 is the first reported case of Sicilian type of (deltaß)º-thalassemia in association with ß-thalassemia documented at the molecular level
Full text:
Available
Index:
LILACS (Americas)
Main subject:
Hemoglobin, Sickle
/
Beta-Thalassemia
Type of study:
Diagnostic study
/
Prognostic study
/
Risk factors
Limits:
Adult
/
Female
/
Humans
/
Male
Country/Region as subject:
South America
/
Brazil
Language:
English
Journal:
Braz. j. med. biol. res
Journal subject:
Biology
/
Medicine
Year:
2002
Type:
Article
Affiliation country:
Brazil
Institution/Affiliation country:
Universidade Estadual de Campinas/BR
Similar
MEDLINE
...
LILACS
LIS