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
Dans Anglais
| 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
Texte intégral:
Disponible
Indice:
LILAS (Amériques)
Sujet Principal:
Hémoglobine S
/
Bêta-Thalassémie
Type d'étude:
Etude diagnostique
/
Étude pronostique
/
Facteurs de risque
Limites du sujet:
Adulte
/
Femelle
/
Humains
/
Mâle
Pays comme sujet:
Amérique du Sud
/
Brésil
langue:
Anglais
Texte intégral:
Braz. j. med. biol. res
Thème du journal:
Biologie
/
Médicament
Année:
2002
Type:
Article
Pays d'affiliation:
Brésil
Institution/Pays d'affiliation:
Universidade Estadual de Campinas/BR
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