[Sickle cell syndrome. Association between hemoglobin S and ß thalassemia]. / Síndrome drepanocítico. Asociación de hemoglobina S y ß talasemia.
Medicina (B Aires)
; 76(6): 369-372, 2016.
Article
em Es
| MEDLINE
| ID: mdl-27959846
ABSTRACT
Sickle cell syndrome HbS/ß thalassemia is an inheritable mendelian type disease where two affected alleles are simultaneously present, one from HbS (ßS) and the other from ß thalassemia. That situation is mainly linked to individuals who share African and Mediterranean ancestors. The mutation responsible for HbS is a point mutation, whereas for ß thalassemia, there are more than 200 mutations that cause different degrees of deficiency synthesis of ß globin chain, which justifies the clinical and genetic heterogeneity of this syndrome. It is presented a clinical case of a young adult man with limited resources that consulted by longstanding bone pain. The patient presented anemia with a marked microcytosis. Hemoglobin electrophoresis was performed, an abnormal peak in position of HbS and high HbA2 fraction were detected. These last results indicated two possible molecular alterations simultaneously, for this reason the molecular study was performed looking for the most common ß thalassemia mutations in our population and, the point mutation responsible for S hemoglobinopathy. Clinical data and biochemical laboratory allowed the diagnosis of sickle cell syndrome. The molecular study confirmed the syndrome carrying mutations IVS-I nt 110 G > A, responsible for ß thalassemia and, codon 6 A > T (GAG â GTG Glu â Val) responsible for S hemoglobinophaty. Since it is a disease of high health impact, it is important to provide genetic counseling to the whole family.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Hemoglobina Falciforme
/
Mutação Puntual
/
Talassemia beta
/
Anemia Falciforme
Tipo de estudo:
Diagnostic_studies
/
Risk_factors_studies
Limite:
Adult
/
Humans
/
Male
Idioma:
Es
Ano de publicação:
2016
Tipo de documento:
Article