Résumé
As alterações na síntese da hemoglobina resultam em um grupo de distúrbios hereditários, os quais podem ser classificados como hemoglobina variante, se a alteração tiver origem em uma mutação no gene da hemoglobina, produzindo cadeias anormais, ou como talassemias, se a estrutura é normal, porém a síntese ocorre em quantidade alterada. Este trabalho tem como objetivo descrever a condução do diagnóstico laboratorial de quatro casos de distúrbios da hemoglobina, a fim de ilustrar o papel do laboratório e discutir o papel do patologista clínico como elemento de elo entre a clínica e o laboratório no processo de elucidação diagnóstica.
Defective synthesis of hemoglobin gives rise to a group of hereditary disorders. If the defect arises from a genetic mutation producing abnormal protein chains, the condition is classified as hemoglobin variant. Whereas, if the structure is normal but the synthesis is reduced, they are denominated as thalassaemia. This article aims to describe the laboratory diagnostic approach in four cases of hemoglobin disorders in order to illustrate the role of laboratories and discuss the role of clinical pathologists as a link between physicians and laboratories in diagnostic clarification.
Sujets)
Humains , Mâle , Femelle , Techniques de laboratoire clinique , Hémoglobines anormales , Hémoglobinopathies/diagnostic , Analyse de Laboratoire , Anatomopathologie clinique , Thalassémie/diagnosticRésumé
We report the coexistence of Hb Camperdown [beta104 (G6) Arg -> Ser] and beta°-thalassemia [beta39 (Gln -> stop codon)] in a nine-month-old Brazilian boy. He had a relatively more severe hypochromic and microcytic anemia in comparison to his mother's beta-thalassemia trait. His Hb Camperdown heterozygous father was clinically and hematologically normal. To our knowledge, this is the first description of an association of beta°-thalassemia with Hb Camperdown.