Mild clinical expression of S-<FONT FACE=Symbol>b</font> thalassemia in a Brazilian patient with the <FONT FACE=Symbol>b</font>+ IVS-I-6 (T<FONT FACE=Symbol>®</font>C) mutation
We report on an eight-year-old Brazilian girl with S-b+ thalassemia. The patient had a steady 10.1 g/dl hemoglobin with 57% HbS. Direct sequence analysis of b-globin gene showed her to be heterozygous for the IVS-I-6 (T®C) mutation. This b+ thalassemia mutation, sometimes referred to as the Portugue...
Uloženo v:
| Hlavní autoři: | , , , , |
|---|---|
| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
Sociedade Brasileira de Genética
1998-12-01
|
| Edice: | Genetics and Molecular Biology |
| On-line přístup: | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47571998000400002&tlng=en |
| Tagy: |
Žádné tagy, Buďte první, kdo vytvoří štítek k tomuto záznamu!
|