beta thalassemia and assisted reproductive techniques
BETA THALASSEMIA AND ASSISTED REPRODUCTIVE TECHNIQUES: AN
Tomasi Alessandra 3, Formenton F 3, Ravani A1 , Gamberini MR2 , Furin M.T4, De Sanctis V2,
Dossi L3 , Bigoni S1, Stellin G3.
1University Hospital Ferrara, Medical Genetic Section Ferrara Italy
2University Hospital Ferrara, Pediatric Division Ferrara Italy
3Department "Materno Infantile" Hospital of Trecenta, Azienda ULSS 18 - Rovigo Italy
4Department “Patologia Clinica, Servizio di Medicina di Laboratorio”, " Hospital of Trecenta,
Azienda ULSS 18, Rovigo Italy
"VIII Congrès de la Société Européenne de Gynécologie - SEG 2009"
Roma 10-13 settembre 2009
: Introduction During the last few years the life perspective for women affected by Thalassemia
Major has remarkably increased and consequently the desire to obtain a pregnancy. These women
suffer generally from primary or secondary amenorrhoea due to hypogonadism hypogonadotropic
and so they are usually referred to a Assisted Reproductive Center to obtain a pregnancy. Material
and methods We report a total of 17 such patients of whom 10 women underwent ART (5 with
IUI and 5 FIVET-ICSI). For most of them a careful genetic evaluation was made in order to
genotype the disease and to exclude the presence of a thalassemic trait in the partner. This is
necessary to formulate reproductive risk of thalassemia in the offspring. From the gynecological
point of view, they followed a personalized therapeutic protocol which provided a greater dosage
of Gonadotropine drugs for ovarian stimulation regarding women without the disease. Results 6
pregnancies (1 ICSI, 1FIVET and 4 AIH), of which 3 twins, were obtained out of these cycles.
They all ended in the birth of healthy children. From the genetic point of view the more frequent
genotype of our women was homozygosity for the Beta cod 39 mutation or compound
heterozygosity for the Beta°cod 39/beta+ IVS nt110 mutations. Among the partners, we found two
carriers of thalassemic trait (one with alpha and one with beta thalassemic trait). Conclusions In
this study we would like to highlight that for women with Thalassemia Major it is possible to
obtain pregnancies through Assisted Reproductive techniques but it is fundamental to provide a
genetic counselling to the couple, a personalized hormonal treatment during the ART, a follow up
of a multidisciplinary team to monitor the other aspects of the disease.