Beta-thalassemia major of late diagnosis revealed by pregnancy: a double atypical observation

Abstract

The diagnosis of beta thalassemia major is most often made in childhood, the discovery in adults is exceptional. We report an observation of a transfusion-dependent form of beta thalassemia diagnosed following a pathological pregnancy. A 30-year-old patient was being managed for transfusion-refractory anemia following a pregnancy with a 28-week amenorrhea abortion. The patient had anemic syndrome, hemolytic jaundice, splenomegaly and craniofacial dysmorphia. Biology noted microcytic hypochromic anemia with a hemoglobin level of 6.3 g/dl and significant erythroblastosis and an electrophoretic profile of major beta-thalassemia. Radiography of the skull showed cortical hypertrophy with a protrusion of the frontal bone and diffuse osteoporosis. The patient received iron chelation therapy combined with a transfusion regimen of red blood cell concentrate and folic acid. This observation illustrates a double atypia of symptomatic major beta thalassemia with transfusion need discovered late and exceptional spontaneous pregnancy in this field.